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Journal Abstract Search

260 related items for PubMed ID: 20082719

  • 1. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
    Merle U, Weiss KH, Eisenbach C, Tuma S, Ferenci P, Stremmel W.
    BMC Gastroenterol; 2010 Jan 18; 10():8. PubMed ID: 20082719
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  • 2. Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
    Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS.
    Ann Clin Lab Sci; 2010 Jan 18; 40(1):15-9. PubMed ID: 20124325
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  • 3. 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.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Clin Genet; 2005 Dec 18; 68(6):524-32. PubMed ID: 16283883
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  • 4. Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice.
    Merle U, Tuma S, Herrmann T, Muntean V, Volkmann M, Gehrke SG, Stremmel W.
    J Gastroenterol Hepatol; 2010 Jun 18; 25(6):1144-50. PubMed ID: 20594231
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  • 7. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR, Cox DW.
    Am J Hum Genet; 1998 Dec 18; 63(6):1663-74. PubMed ID: 9837819
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  • 8. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
    Li M, Ma J, Wang W, Yang X, Luo K.
    BMC Gastroenterol; 2021 Sep 01; 21(1):339. PubMed ID: 34470610
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  • 14. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
    Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.
    Cell Mol Biol (Noisy-le-grand); 2001 Sep 01; 47 Online Pub():OL149-57. PubMed ID: 11936861
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  • 15. Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
    Liu Y, Zhou H, Guo H, Bai Y.
    Arch Med Res; 2015 Feb 01; 46(2):164-9. PubMed ID: 25704634
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  • 17. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
    Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M, Stanley M, Selvi S, Kurian G, Chandy GM.
    Indian J Gastroenterol; 2006 Feb 01; 25(6):277-82. PubMed ID: 17264425
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