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Journal Abstract Search

428 related items for PubMed ID: 9311736

  • 1.
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  • 2. Haplotype and mutation analysis in Japanese patients with Wilson disease.
    Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, Anezaki T, Cox DW.
    Am J Hum Genet; 1997 Jun; 60(6):1423-9. PubMed ID: 9199563
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  • 4. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
    Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.
    Zhonghua Er Ke Za Zhi; 2003 Jan; 41(1):35-8. PubMed ID: 14761325
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  • 5. 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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  • 6. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
    Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H.
    Hum Mutat; 2000 Sep 01; 15(5):454-62. PubMed ID: 10790207
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  • 8. 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 01; 13(3):CS38-40. PubMed ID: 17325640
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  • 9. 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 Mar 01; 47 Online Pub():OL149-57. PubMed ID: 11936861
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  • 10. ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
    Ljubić H, Kalauz M, Telarović S, Ferenci P, Ostojić R, Noli MC, Lepori MB, Hrstić I, Vuković J, Premužić M, Radić D, Ravić KG, Sertić J, Merkler A, Barišić AA, Loudianos G, Vucelić B.
    Genet Test Mol Biomarkers; 2016 Mar 01; 20(3):112-7. PubMed ID: 26799313
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  • 11. 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 01; 21(2):245-8. PubMed ID: 16211609
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  • 12. 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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  • 14. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
    Loudianos G, Kostic V, Solinas P, Lovicu M, Dessì V, Svetel M, Major T, Cao A.
    Genet Test; 2003 Dec 01; 7(2):107-12. PubMed ID: 12885331
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  • 15. A study of Wilson disease mutations in Britain.
    Curtis D, Durkie M, Balac (Morris) P, Sheard D, Goodeve A, Peake I, Quarrell O, Tanner S.
    Hum Mutat; 1999 Dec 01; 14(4):304-11. PubMed ID: 10502777
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  • 16. 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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  • 17. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR, Cox DW.
    Am J Hum Genet; 1998 Dec 15; 63(6):1663-74. PubMed ID: 9837819
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  • 18. Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.
    Poláková H, Katrincsáková B, Minárik G, Feráková E, Ficek A, Baldovic M, Kádasi L.
    Gen Physiol Biophys; 2007 Jun 15; 26(2):91-6. PubMed ID: 17660582
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  • 19. [Wilson disease: an update].
    Seo JK.
    Korean J Hepatol; 2006 Sep 15; 12(3):333-63. PubMed ID: 16998287
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