Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Hämochromatose 5

Die Hämochromatose 5 ist eine autosomal rezessive Eisenspeicherkrankheit, die durch Mutationen im FTH1-Gen hervorgerufen wird.

Gliederung

Hämochromatose
Hämochromatose 1
Hämochromatose 2a
Hämochromatose 2b
Hämochromatose 3
Hämochromatose 4
Hämochromatose 5
FTH1

Referenzen:

1.

de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice.

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2.

Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

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3.

Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.

external link
4.

Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.

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5.

Kato J et al. (2001) A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.

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6.

Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

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7.

Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study.

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8.

Simon M et al. (1977) Heredity of idiopathic haemochromatosis.

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9.

Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families.

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10.

Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis.

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11.

Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes.

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12.

Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease.

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13.

Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele.

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14.

Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease.

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15.

None (1979) Genetic linkage and hemosiderosis.

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16.

Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA.

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17.

Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis.

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18.

Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA.

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19.

Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH).

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20.

Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA.

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21.

Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people.

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22.

None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis.

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23.

Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families.

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24.

Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children.

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25.

Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred.

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26.

Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.

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27.

Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis.

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28.

Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.

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29.

Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis.

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30.

Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers.

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31.

Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.

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32.

Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis.

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33.

Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.

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34.

Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p.

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35.

None (1992) Intrafamilial variation in hereditary hemochromatosis.

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36.

Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.

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37.

Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.

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38.

Dokal I et al. (1991) Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus.

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39.

Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus.

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40.

None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases.

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41.

Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis.

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42.

Worwood M et al. (1991) Hereditary haemochromatosis and blood donation.

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43.

Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis.

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44.

Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6.

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45.

Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians.

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46.

Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis.

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47.

Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.

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48.

Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.

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49.

David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis.

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50.

Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families.

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51.

Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.

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52.

Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.

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53.

David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family.

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54.

Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population.

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55.

Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene.

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56.

Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors?

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57.

McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes.

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58.

None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII.

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59.

Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland.

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60.

Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis.

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61.

Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

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62.

Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.

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63.

Simon M et al. (1987) A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.

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64.

Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage.

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65.

Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis.

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66.

Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion.

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67.

Escobar GJ et al. (1987) Primary hemochromatosis in childhood.

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68.

Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.

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69.

MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases.

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70.

Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease.

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71.

Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families.

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72.

Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients.

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73.

Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey.

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74.

Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.

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75.

Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden.

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76.

Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele?

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77.

Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.

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78.

Olsson KS et al. (1984) Screening for iron overload using transferrin saturation.

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79.

Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families.

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80.

Olsson KS et al. (1983) Prevalence of iron overload in central Sweden.

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81.

None (1983) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1983. A 30-year-old man with hypogonadism.

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82.

Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.

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83.

Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families.

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84.

None (1982) A foundation for hemochromatosis.

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85.

Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses.

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86.

Simon M et al. (1980) Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.

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87.

Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis.

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88.

Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis.

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89.

Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations.

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90.

Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.

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91.

Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.

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92.

Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes.

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93.

Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.

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94.

Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

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95.

Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis.

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96.

None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean.

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97.

Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.

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98.

Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

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99.

Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105.

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100.

Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.

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101.

el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus.

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102.

Raha-Chowdhury R et al. (1996) A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis.

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103.

Rothenberg BE et al. (1996) beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism.

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104.

None (1996) Haemochromatosis: strike while the iron is hot.

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105.

Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

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106.

Totaro A et al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.

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107.

Jazwinska EC et al. (1996) Haemochromatosis and HLA-H.

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108.

Jouanolle AM et al. (1996) Haemochromatosis and HLA-H.

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109.

Beutler E et al. (1996) Mutation analysis in hereditary hemochromatosis.

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110.

Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

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111.

Hashimoto K et al. (1997) Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.

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112.

Roberts AG et al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

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113.

Robson KJ et al. (1997) Haemochromatosis: a gene at last?

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114.

Mercier B et al. (1997) Putting a hold on 'HLA-H'.

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115.

Bodmer JG et al. (1997) Putting a hold on "HLA-H'. The WHO Nomenclature Committee for Factors of the HLA System.

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116.

Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

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117.

Parkkila S et al. (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract.

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118.

Merryweather-Clarke AT et al. (1997) Global prevalence of putative haemochromatosis mutations.

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119.

Feder JN et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

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120.

Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

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121.

Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population.

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122.

Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis.

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123.

Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

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124.

None (1997) The significance of the 187G (H63D) mutation in hemochromatosis.

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125.

Jouanolle AM et al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

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126.

Waheed A et al. (1997) Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

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127.

Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.

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128.

Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.

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129.

None (1997) Haemochromatosis, HFE and genetic complexity.

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130.

Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects.

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131.

Camaschella C et al. () Juvenile and adult hemochromatosis are distinct genetic disorders.

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132.

None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.

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133.

Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

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134.

None (1998) Targeted disruption of the HFE gene.

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135.

Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis.

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136.

Lebrón JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.

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137.

Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.

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138.

Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy.

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139.

Cullen LM et al. (1998) The hemochromatosis 845 G>A and 187 C>G mutations: prevalence in non-Caucasian populations.

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140.

Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation.

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141.

Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites.

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142.

Cazzola M et al. (1998) Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder.

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143.

Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening.

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144.

None (1998) Celtic origin of the C282Y mutation of hemochromatosis.

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145.

Powell LW et al. (1998) Diagnosis of hemochromatosis.

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146.

Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group.

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147.

Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States.

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148.

Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients.

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149.

Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis.

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150.

Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.

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151.

Kelly AL et al. (1998) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.

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152.

Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.

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153.

Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells.

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154.

Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations.

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155.

Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

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156.

Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.

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157.

Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

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158.

Roetto A et al. (1999) Juvenile hemochromatosis locus maps to chromosome 1q.

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159.

Camaschella C et al. (1999) Inherited HFE-unrelated hemochromatosis in Italian families.

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160.

Levy JE et al. (1999) The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

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161.

Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis.

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162.

de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

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163.

Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.

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164.

Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene.

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165.

Pietrangelo A et al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.

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166.

Gomez PS et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

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167.

Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.

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168.

Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

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169.

Willis G et al. (2000) Incidence of liver disease in people with HFE mutations.

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170.

Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis.

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171.

Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

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172.

Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.

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173.

Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.

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174.

Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis.

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175.

Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis.

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176.

Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997.

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177.

Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice.

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178.

Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

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179.

Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.

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180.

Aguilar-Martinez P et al. (2001) Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

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181.

Moczulski DK et al. (2001) Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

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182.

Njajou OT et al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

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183.

Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.

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184.

Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis.

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185.

Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.

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186.

Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

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187.

Thénié AC et al. (2001) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.

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188.

Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.

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189.

Beutler E et al. (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

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190.

de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

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191.

Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.

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192.

Cardoso CS et al. (2002) Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?

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193.

Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.

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194.

De Gobbi M et al. (2002) Natural history of juvenile haemochromatosis.

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195.

Mattman A et al. (2002) Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

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196.

Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

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197.

Poullis A et al. (2002) Clinical haemochromatosis in HFE mutation carriers.

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198.

Drakesmith H et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages.

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199.

McCune CA et al. (2002) Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.

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200.

Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

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201.

Papanikolaou G et al. () Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.

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202.

Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

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203.

Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

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204.

Le Gac G et al. () Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

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205.

Milman N et al. (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.

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206.

Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

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207.

Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

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208.

Zoller H et al. (2003) Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis.

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209.

NUSSBAUMER T et al. (1952) [Juvenile hemochromatosis in three sisters and one brother associated with consanguinity of the parents; anatomo-clinical and genetic study of the endocrino-hepato-myocardial syndrome].

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210.

DEBRE R et al. (1958) Genetics of haemochromatosis.

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211.

BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis.

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212.

PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY.

external link
213.

JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis.

external link
214.

Peterlin B et al. (2003) A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.

external link
215.

Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

external link
216.

Tomatsu S et al. (2003) Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

external link
217.

Livesey KJ et al. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

external link
218.

Lanzara C et al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

external link
219.

Robson KJ et al. (2004) Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.

external link
220.

Andersen RV et al. (2004) Hemochromatosis mutations in the general population: iron overload progression rate.

external link
221.

Roy CN et al. (2004) An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.

external link
222.

None (2004) Hereditary hemochromatosis--a new look at an old disease.

external link
223.

Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

external link
224.

Mehrany K et al. (2004) Association of porphyria cutanea tarda with hereditary hemochromatosis.

external link
225.

Distante S et al. (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation.

external link
226.

Oliva R et al. (2004) The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.

external link
227.

Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

external link
228.

Valenti L et al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

external link
229.

McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis.

external link
230.

Gehrke SG et al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.

external link
231.

De Domenico I et al. (2005) The molecular basis of ferroportin-linked hemochromatosis.

external link
232.

Ka C et al. (2005) The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

external link
233.

Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.

external link
234.

Rohrlich PS et al. (2005) Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function.

external link
235.

Cremonesi L et al. (2005) Genetic and clinical heterogeneity of ferroportin disease.

external link
236.

Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.

external link
237.

Barton JC et al. (2006) Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study.

external link
238.

Sarić M et al. (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro.

external link
239.

Ludwiczek S et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.

external link
240.

Adams PC et al. (2007) Haemochromatosis.

external link
241.

Allen KJ et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

external link
242.

Murugan RC et al. (2008) Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.

external link
243.

Waalen J et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

external link
244.

None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis.

external link
245.

Davis TM et al. (2008) Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.

external link
246.

Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

external link
247.

Benyamin B et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

external link
248.

Nairz M et al. (2009) Absence of functional Hfe protects mice from invasive Salmonella enterica serovar Typhimurium infection via induction of lipocalin-2.

external link
249.

Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

external link
250.

Cippà PE et al. (2013) Increased height in HFE hemochromatosis.

external link
251.

Hill WG et al. (1968) Linkage disequilibrium in finite populations.

external link
252.

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