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Journal Abstract Search

221 related items for PubMed ID: 36308701

  • 1.
    ; . PubMed ID:
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  • 2. 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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  • 3. 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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  • 4. [Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
    Luo KZ, Yang X, Tong DJ, He G, Yi LX.
    Zhonghua Gan Zang Bing Za Zhi; 2006 Dec 01; 14(12):920-3. PubMed ID: 17196137
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  • 5. 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 01; 94(10):1184-8. PubMed ID: 22145502
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  • 7. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
    Guggilla SR, Senagari JR, Rao PN, Madireddi S.
    Gene; 2015 Sep 10; 569(1):83-7. PubMed ID: 25982861
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  • 8. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
    Zhou XY, Yin HX, Wang CL, Liu ZF, Zheng BX, Jin Y.
    Zhonghua Gan Zang Bing Za Zhi; 2020 Jul 20; 28(7):603-607. PubMed ID: 32791797
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  • 9. 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 20; 21(2):181-5. PubMed ID: 22720308
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  • 12. [Study on relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM syndrome type in Chinese patients with Wilson disease].
    Yang B, Hu JY, Hong MF.
    Zhongguo Zhong Xi Yi Jie He Za Zhi; 2002 Apr 20; 22(4):280-2. PubMed ID: 12584791
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  • 13. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.
    Barada K, El-Atrache M, El-Hajj II, Rida K, El-Hajjar J, Mahfoud Z, Usta J.
    J Clin Gastroenterol; 2010 Jul 20; 44(6):432-9. PubMed ID: 20485189
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  • 14. 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 20; 61(2):317-28. PubMed ID: 9311736
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  • 15. 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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  • 16. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 23; 26(5):397-403. PubMed ID: 26215059
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  • 17. 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 23; 23(4):398. PubMed ID: 15024742
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  • 18. 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 23; 60(6):1423-9. PubMed ID: 9199563
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  • 19. [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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  • 20. 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 20; 26(2):91-6. PubMed ID: 17660582
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