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181 related items for PubMed ID: 11402441

  • 1. [A study of Wilson's disease gene encoded products and gene mutations].
    Hou G, Liang X, Chen R, Yang C, Huang F, Yan Z, Xu P, Wang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Jun; 18(3):165-8. PubMed ID: 11402441
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  • 2. [A study of gene products encoded by Wilson disease gene].
    Liang X, Hou G, Chen R, Xu P, Huang F, Wang Y, Yan Z, Ou c.
    Zhonghua Gan Zang Bing Za Zhi; 2001 Apr; 9(2):86-8. PubMed ID: 11350685
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  • 3. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
    Zhang DF, Teng JF.
    Genet Mol Res; 2016 Sep 23; 15(3):. PubMed ID: 27706781
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  • 7. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
    Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.
    Mov Disord; 2006 Feb 23; 21(2):245-8. PubMed ID: 16211609
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  • 14. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
    Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H.
    Clin Genet; 2003 Dec 23; 64(6):479-84. PubMed ID: 14986826
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  • 15. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
    Tomić A, Dobricić V, Novaković I, Svetel M, Pekmezović T, Kresojević N, Potrebić A, Kostić VS.
    Vojnosanit Pregl; 2013 May 23; 70(5):457-62. PubMed ID: 23789284
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  • 16. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
    Lu CX, Qing Lin, Huang WQ, Tzeng CM.
    Eur J Med Genet; 2014 Sep 23; 57(9):498-502. PubMed ID: 24878384
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  • 17. 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 23; 68(6):524-32. PubMed ID: 16283883
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  • 20. Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
    Gu S, Yang H, Qi Y, Deng X, Zhang L, Guo Y, Huang Q, Li J, Shi X, Song Z, Deng H.
    PLoS One; 2013 Dec 23; 8(7):e66526. PubMed ID: 23843956
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