Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Kupfer-transportierende ATPase 2

Das ATP7B-gen kodiert eine Kationen bindende ATPase, die für den Kupfertransport aus den Zellen Verantwortlich ist. Mutationen führen zur autosomal rezessiven Erkrankung Morbus Wilson.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Morbus Wilson
ATP7B

Referenzen:

1.

None (1979) Abstracts of meeting presentations.

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2.

Tedesco TA et al. (1975) The genetic defect in galactosemia.

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3.

Kaufman F et al. (1979) Ovarian failure in galactosaemia.

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4.

Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

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5.

Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

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6.

Westerveld A et al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

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7.

Mohandas T et al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

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8.

Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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9.

Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

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10.

Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

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11.

Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

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12.

Benson PF et al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

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13.

Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

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14.

Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

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15.

Meera Khan P et al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

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16.

Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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17.

Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

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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.

Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

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23.

Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

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24.

Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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25.

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26.

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27.

Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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28.

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29.

Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

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30.

Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

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31.

Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.

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32.

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33.

Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.

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34.

Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.

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35.

Kelly S et al. (1972) A Duarte variant with clinical signs.

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36.

Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].

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37.

Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

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38.

None (1967) Clinical variants of galactosemia.

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39.

Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

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40.

Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

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41.

Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

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42.

Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

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43.

Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

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44.

Eriksen B et al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

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45.

Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

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46.

Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

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47.

Mulcahy MT et al. (1980) Where is the gene for GALT?

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48.

Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

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49.

Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

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50.

Dagna Bricarelli F et al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

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51.

Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

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52.

Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

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53.

Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

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54.

Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

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55.

Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

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56.

Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

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57.

Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

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58.

Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

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59.

Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

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60.

Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

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61.

Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.

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62.

Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.

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63.

Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.

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64.

Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.

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65.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

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66.

Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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67.

Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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68.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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69.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

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70.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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71.

Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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72.

Magrangeas F et al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

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73.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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74.

Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

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75.

Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

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76.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

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77.

Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

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78.

Elsas LJ et al. () The molecular biology of galactosemia.

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79.

Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

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80.

Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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81.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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82.

Webb AL et al. (2003) Verbal dyspraxia and galactosemia.

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83.

DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

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84.

WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

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85.

BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

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86.

Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

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87.

None (2006) Classical galactosaemia revisited.

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88.

Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

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89.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

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90.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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91.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

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92.

Weinberg AG et al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

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93.

Fisch RO et al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.

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94.

Lindblad B et al. (1977) On the enzymic defects in hereditary tyrosinemia.

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95.

Holme E et al. (1992) Neonatal screen for hereditary tyrosinaemia type I.

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96.

Lindstedt S et al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

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97.

Phaneuf D et al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

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98.

Sokal EM et al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.

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99.

Kvittingen EA et al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.

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100.

Phaneuf D et al. (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

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101.

Mitchell G et al. (1990) Neurologic crises in hereditary tyrosinemia.

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102.

De Braekeleer M et al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

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103.

Tanguay RM et al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

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104.

Russo P et al. (1990) Visceral pathology of hereditary tyrosinemia type I.

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105.

Laberge C et al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

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106.

Paradis K et al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience.

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107.

Dehner LP et al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.

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108.

van Spronsen FJ et al. (1989) Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.

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109.

Tuchman M et al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.

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110.

Holme E et al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.

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111.

Pettit BR et al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia.

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112.

Kvittingen EA et al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.

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113.

Kvittingen EA et al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

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114.

Kvittingen EA et al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia.

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115.

Whelan DT et al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia.

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116.

Gaull GE et al. (1968) Significance of hypermethionaemia in acute tyrosinosis.

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117.

None (1967) The enzymatic deficiency in tyrosinemia.

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118.

Gaull GE et al. (1970) Biochemical observations on so-called hereditary tyrosinemia.

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119.

Kang ES et al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.

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120.

None (1969) Hereditary tyrosinemia in a French Canadian isolate.

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121.

Halvorsen S et al. (1966) Tyrosinosis. A study of 6 cases.

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122.

Scriver CR et al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

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123.

Hostetter MK et al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.

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124.

Gartner JC et al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.

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125.

Kvittingen EA et al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.

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126.

Gagné R et al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.

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127.

Kvittingen EA et al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.

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128.

Malpuech G et al. (1981) [Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].

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129.

Grompe M et al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.

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130.

Hahn SH et al. (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

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131.

Laine J et al. (1995) The nephropathy of type I tyrosinemia after liver transplantation.

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132.

St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.

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133.

Demers SI et al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

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134.

Kvittingen EA et al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I.

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135.

Rootwelt H et al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

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136.

Grompe M et al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

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137.

St-Louis M et al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

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138.

Grompe M et al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

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139.

Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

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140.

Labelle Y et al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

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141.

Kvittingen EA et al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

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142.

None (1996) Round two for liver gene therapy.

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143.

Overturf K et al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

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144.

Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

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145.

St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

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146.

Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.

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147.

Overturf K et al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.

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148.

St-Louis M et al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

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149.

Endo F et al. (1997) Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.

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150.

Kubo S et al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.

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151.

Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

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152.

Holme E et al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

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153.

Prieto-Alamo MJ et al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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154.

Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

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155.

Aponte JL et al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

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156.

Jorquera R et al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

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157.

Arranz JA et al. (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

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158.

None (1963) TYROSINOSIS.

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159.

FRITZELL S et al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.

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160.

HALVORSEN S et al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

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161.

GENTZ J et al. (1965) TYROSINEMIA.

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162.

PERRY TL et al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.

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163.

Bliksrud YT et al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

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164.

Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.

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165.

Loudianos G et al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

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166.

Okada T et al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

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167.

Forbes JR et al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

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168.

García-Villarreal L et al. (2000) High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

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169.

Takeshita Y et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes.

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170.

Margarit E et al. (2005) Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

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171.

Gupta A et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

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172.

Gromadzka G et al. (2005) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

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173.

Park S et al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

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174.

Park HD et al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

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175.

Wang LH et al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

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176.

Thomas GR et al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.

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177.

Thomas GR et al. (1995) Wilson disease in Iceland: a clinical and genetic study.

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178.

Thomas GR et al. (1995) Haplotypes and mutations in Wilson disease.

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179.

Sasaki N et al. (1994) The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.

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180.

Bull PC et al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

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181.

Tanzi RE et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

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182.

Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

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183.

Terada K et al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.

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184.

Kim EK et al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

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185.

Loudianos G et al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

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186.

Duc HH et al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

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187.

Reed V et al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.

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188.

Houwen RH et al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.

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189.

Dijkstra M et al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.

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190.

Petrukhin K et al. (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

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191.

Yang XL et al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.

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192.

Shah AB et al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

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193.

Payne AS et al. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

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194.

Kusuda Y et al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

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195.

None (2000) Cellular copper transport and metabolism.

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196.

Wilson DC et al. (2000) Severe hepatic Wilson's disease in preschool-aged children.

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197.

La Fontaine S et al. (2001) Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.

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198.

Loudianos G et al. (2000) Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

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199.

Wu ZY et al. (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

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200.

Firneisz G et al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary.

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201.

Loudianos G et al. (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

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202.

None () Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

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203.

Cullen LM et al. (2003) Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

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204.

Gu YH et al. (2003) Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

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205.

Panagiotakaki E et al. (2004) Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

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206.

Pendlebury ST et al. (2004) Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.

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207.

Dedoussis GV et al. (2005) Wilson disease: high prevalence in a mountainous area of Crete.

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208.

Todorov T et al. (2005) Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

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209.

Lim CM et al. (2006) Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.

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210.

Barada K et al. (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.

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211.

Luoma LM et al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

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212.

Gourdon P et al. (2011) Crystal structure of a copper-transporting PIB-type ATPase.

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213.

NCBI article

NCBI 540 [^]
214.

OMIM.ORG article

Omim 606882 [^]
215.

Orphanet article

Orphanet ID 118882 [^]
216.

Wikipedia Artikel

Wikipedia DE (Wilson-Protein) [^]
Update: 9. Mai 2019