Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hemochromatosis 3

Hemochromatosis 3 is an autosomal dominant disorder caused by mutations of the TRF2 gene.

Systematic

Hemochromatosis
Hemochromatosis 1
Hemochromatosis 2a
Hemochromatosis 2b
Hemochromatosis 3
TFR2
Hemochromatosis 4
Hemochromatosis 5

References:

1.

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2.

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3.

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4.

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7.

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8.

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10.

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11.

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12.

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13.

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14.

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15.

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16.

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17.

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18.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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

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27.

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

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28.

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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29.

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30.

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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31.

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

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32.

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

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33.

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

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34.

None (1992) Intrafamilial variation in hereditary hemochromatosis.

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35.

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

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36.

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

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37.

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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38.

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

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39.

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

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40.

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

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41.

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42.

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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43.

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

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44.

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

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45.

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

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46.

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47.

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

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48.

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

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49.

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

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50.

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

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51.

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

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52.

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

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53.

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

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54.

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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55.

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

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56.

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

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57.

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

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58.

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

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59.

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

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60.

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

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61.

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

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62.

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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63.

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

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64.

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65.

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66.

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

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67.

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

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68.

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

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69.

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

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70.

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

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71.

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

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72.

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

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73.

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

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74.

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

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75.

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

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76.

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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77.

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

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78.

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

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79.

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

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80.

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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81.

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

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82.

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

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83.

None (1982) A foundation for hemochromatosis.

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84.

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

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85.

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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86.

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

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87.

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

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88.

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

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89.

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

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90.

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

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91.

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

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92.

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

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93.

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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94.

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

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95.

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

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96.

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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97.

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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98.

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

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99.

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

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100.

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

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101.

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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102.

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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103.

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

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104.

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

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105.

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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106.

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

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107.

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

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108.

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

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109.

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

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110.

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

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111.

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

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112.

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

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113.

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

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114.

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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115.

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

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116.

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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117.

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

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118.

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

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119.

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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120.

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

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121.

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

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122.

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

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123.

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

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124.

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

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125.

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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126.

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

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127.

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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128.

None (1997) Haemochromatosis, HFE and genetic complexity.

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129.

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

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130.

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

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131.

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

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132.

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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133.

None (1998) Targeted disruption of the HFE gene.

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134.

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

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135.

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

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136.

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

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137.

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

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138.

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

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139.

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

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140.

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

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141.

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142.

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143.

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

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144.

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145.

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146.

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147.

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148.

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

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149.

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

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150.

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

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151.

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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152.

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

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153.

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

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154.

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

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155.

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

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156.

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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157.

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

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158.

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

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159.

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

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160.

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

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161.

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

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162.

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

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163.

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

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164.

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

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165.

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

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166.

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

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167.

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

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168.

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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169.

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

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170.

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

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171.

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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172.

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

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173.

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

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174.

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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175.

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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176.

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

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177.

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

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178.

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

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179.

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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180.

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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181.

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

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182.

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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183.

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

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184.

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

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185.

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

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186.

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

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187.

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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188.

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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189.

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

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190.

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

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191.

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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192.

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

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193.

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

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194.

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

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195.

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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196.

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

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197.

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

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198.

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

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199.

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

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200.

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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201.

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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202.

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203.

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

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204.

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205.

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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206.

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

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207.

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208.

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209.

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210.

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211.

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212.

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213.

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