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Journal Abstract Search


468 related items for PubMed ID: 23333878

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  • 23. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR, Cox DW.
    Am J Hum Genet; 1998 Dec; 63(6):1663-74. PubMed ID: 9837819
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  • 24. 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; 20(3):112-7. PubMed ID: 26799313
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  • 26. 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 Mar; 40(1):15-9. PubMed ID: 20124325
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  • 29. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
    Yoo HW.
    Genet Med; 2002 Mar; 4(6 Suppl):43S-48S. PubMed ID: 12544487
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  • 30. 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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  • 31. Wilson disease: high prevalence in a mountainous area of Crete.
    Dedoussis GV, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H.
    Ann Hum Genet; 2005 May; 69(Pt 3):268-74. PubMed ID: 15845031
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  • 32. Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
    Leggio L, Malandrino N, Loudianos G, Abenavoli L, Lepori MB, Capristo E, De Virgiliis S, Gasbarrini G, Addolorato G.
    Dig Dis Sci; 2007 Oct; 52(10):2570-5. PubMed ID: 17410460
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  • 38. 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; 11(3):255-60. PubMed ID: 26253413
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  • 40. Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.
    Chappuis P, Callebert J, Quignon V, Woimant F, Laplanche JL.
    J Trace Elem Med Biol; 2007 Aug; 21(1):37-42. PubMed ID: 17317524
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