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Journal Abstract Search

272 related items for PubMed ID: 11708998

  • 1. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
    Xu P, Liang X, Jankovic J, Le W.
    Arch Neurol; 2001 Nov; 58(11):1879-82. PubMed ID: 11708998
    [Abstract] [Full Text] [Related]

  • 2. 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; 26(2):91-6. PubMed ID: 17660582
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
    Tasmeen R, Karim ASMB, Banu LA, Hossain E, Rokunuzzaman M, Majumder W, Alam ST, Rasid R, Benzamin M, Hasan MS.
    Indian J Gastroenterol; 2022 Oct 01; 41(5):456-464. PubMed ID: 36308701
    [Abstract] [Full Text] [Related]

  • 5. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 01; 26(5):397-403. PubMed ID: 26215059
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 Oct 01; 25(6):277-82. PubMed ID: 17264425
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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Common mutations of ATP7B in Wilson disease patients from Hungary.
    Firneisz G, Lakatos PL, Szalay F, Polli C, Glant TT, Ferenci P.
    Am J Med Genet; 2002 Feb 15; 108(1):23-8. PubMed ID: 11857545
    [Abstract] [Full Text] [Related]

  • 11. Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
    Keandaungjuntr J, Busabaratana M, Kositchaiwat C, Sura T, Pulkes T.
    J Med Assoc Thai; 2011 Oct 15; 94(10):1184-8. PubMed ID: 22145502
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 21(2):245-8. PubMed ID: 16211609
    [Abstract] [Full Text] [Related]

  • 13. The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
    Iacob R, Iacob S, Nastase A, Vagu C, Ene AM, Constantinescu A, Anghel D, Banica C, Paslaru L, Coriu D, Dima S, Gheorghe C, Ionica E, Gheorghe L.
    J Gastrointestin Liver Dis; 2012 Jun 15; 21(2):181-5. PubMed ID: 22720308
    [Abstract] [Full Text] [Related]

  • 14. Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
    Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS.
    Ann Clin Lab Sci; 2010 Jun 15; 40(1):15-9. PubMed ID: 20124325
    [Abstract] [Full Text] [Related]

  • 15. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
    Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH.
    Hum Mutat; 2004 Apr 15; 23(4):398. PubMed ID: 15024742
    [Abstract] [Full Text] [Related]

  • 16. [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 15; 41(1):35-8. PubMed ID: 14761325
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  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
    El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM, Helmy HM, Soliman DH, Selim LH, Sharafeldin HM, Mogahed EA, El-Karaksy HM.
    Arab J Gastroenterol; 2014 Feb 15; 15(3-4):114-8. PubMed ID: 25465132
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 64(6):479-84. PubMed ID: 14986826
    [Abstract] [Full Text] [Related]

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