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416 related items for PubMed ID: 14986826

  • 1. 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; 64(6):479-84. PubMed ID: 14986826
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  • 2. 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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  • 3. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
    Yuan ZF, Wu W, Yu YL, Shen J, Mao SS, Gao F, Xia ZZ.
    World J Pediatr; 2015 Aug 23; 11(3):255-60. PubMed ID: 26253413
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  • 4. Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
    Wei Z, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.
    Neuroreport; 2014 Oct 01; 25(14):1075-80. PubMed ID: 25089800
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  • 8. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
    Li XH, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, Zhou F, De-Min Y, Han Y, Zhang DH, Gong QM, Lu ZM, Kong XF, Wang JS, Zhang XX.
    BMC Med Genet; 2011 Jan 11; 12():6. PubMed ID: 21219664
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  • 9. Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
    Ye S, Gong L, Shui QX, Zhou LF.
    World J Gastroenterol; 2007 Oct 14; 13(38):5147-50. PubMed ID: 17876883
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  • 10. 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 14; 21(2):245-8. PubMed ID: 16211609
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  • 11. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
    Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L.
    Arch Neurol; 2001 Jun 14; 58(6):971-6. PubMed ID: 11405812
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  • 14. [Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].
    Xia JK, Ning HF, Luo X, Zeng Y, Chen YB, Kong XD.
    Zhonghua Gan Zang Bing Za Zhi; 2024 Jun 20; 32(6):558-562. PubMed ID: 38964899
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  • 16. 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 20; 70(5):457-62. PubMed ID: 23789284
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  • 18. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
    Sundaresan S, Eapen CE, Shaji RV, Chandy M, Kurian G, Chandy G.
    Med Sci Monit; 2007 Mar 20; 13(3):CS38-40. PubMed ID: 17325640
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