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Journal Abstract Search

508 related items for PubMed ID: 17325640

  • 1. 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; 13(3):CS38-40. PubMed ID: 17325640
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  • 2. 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 Mar; 25(6):277-82. PubMed ID: 17264425
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  • 3. New novel mutation of the ATP7B gene in a family with Wilson disease.
    Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.
    J Neurol Sci; 2012 Feb 15; 313(1-2):129-31. PubMed ID: 22075048
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  • 4. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.
    Am J Hum Genet; 1997 Aug 15; 61(2):317-28. PubMed ID: 9311736
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  • 5. 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. 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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  • 10. 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 01; 68(6):524-32. PubMed ID: 16283883
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  • 11. 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 01; 11(3):255-60. PubMed ID: 26253413
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  • 12. Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
    Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH.
    PLoS One; 2016 Aug 01; 11(12):e0168372. PubMed ID: 27992490
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  • 14. 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 01; 70(5):457-62. PubMed ID: 23789284
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  • 15. A genetic study of Wilson's disease in the United Kingdom.
    Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.
    Brain; 2013 May 01; 136(Pt 5):1476-87. PubMed ID: 23518715
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