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Journal Abstract Search

326 related items for PubMed ID: 12544487

  • 1. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
    Yoo HW.
    Genet Med; 2002; 4(6 Suppl):43S-48S. PubMed ID: 12544487
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  • 3. [Wilson disease: an update].
    Seo JK.
    Korean J Hepatol; 2006 Sep; 12(3):333-63. PubMed ID: 16998287
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  • 8. [Haplotype analysis at R778L mutation of ATP7B gene in Korean patients with Wilson disease].
    Jin HS, Oh B.
    Korean J Hepatol; 2009 Sep; 15(3):295-8. PubMed ID: 19783878
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  • 9. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
    Ferenci P.
    Hum Genet; 2006 Sep; 120(2):151-9. PubMed ID: 16791614
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  • 10. Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
    Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.
    J Hum Genet; 2013 Feb; 58(2):67-72. PubMed ID: 23235335
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  • 15. [Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis].
    Zhao X, Liu Y, Huang S, Meng Y, Sun M, Yang W, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Oct; 25(5):515-9. PubMed ID: 18841562
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  • 16. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR, Cox DW.
    Am J Hum Genet; 1998 Dec; 63(6):1663-74. PubMed ID: 9837819
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  • 17. Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations.
    Lin CW, Er TK, Tsai FJ, Liu TC, Shin PY, Chang JG.
    Clin Chim Acta; 2010 Sep 06; 411(17-18):1223-31. PubMed ID: 20465995
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  • 19. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
    Simsek Papur O, Akman SA, Cakmur R, Terzioglu O.
    Eur J Med Genet; 2013 Apr 06; 56(4):175-9. PubMed ID: 23333878
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