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Journal Abstract Search

468 related items for PubMed ID: 23333878

  • 41. 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
    [Abstract] [Full Text] [Related]

  • 42. A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease.
    Majumdar R, Al Jumah M, Al Rajeh S, Fraser M, Al Zaben A, Awada A, Al Traif I, Paterson M.
    J Neurol Sci; 2000 Oct 01; 179(S 1-2):140-3. PubMed ID: 11054498
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  • 43. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
    Park S, Park JY, Kim GH, Choi JH, Kim KM, Kim JB, Yoo HW.
    Hum Mutat; 2007 Nov 01; 28(11):1108-13. PubMed ID: 17587212
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  • 44. A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.
    Al Jumah M, Majumdar R, Al Rajeh S, Awada A, Al Zaben A, Al Traif I, Al Jumah AR, Rehana Z.
    Eur J Neurol; 2004 Feb 01; 11(2):121-4. PubMed ID: 14748773
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  • 45. 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 Feb 01; 7(2):107-12. PubMed ID: 12885331
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  • 46. 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 Feb 01; 14(4):304-11. PubMed ID: 10502777
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  • 47. [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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  • 48. 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
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  • 52. 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 01; 44(6):432-9. PubMed ID: 20485189
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  • 53. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
    Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Füllekrug J.
    J Inherit Metab Dis; 2010 Dec 01; 33 Suppl 3():S233-40. PubMed ID: 20517649
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  • 55. 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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  • 57. The Wilson disease gene: spectrum of mutations and their consequences.
    Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW.
    Nat Genet; 1995 Feb 01; 9(2):210-7. PubMed ID: 7626145
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  • 58. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
    Mukherjee S, Dutta S, Majumdar S, Biswas T, Jaiswal P, Sengupta M, Bhattacharya A, Gangopadhyay PK, Bavdekar A, Das SK, Ray K.
    Parkinsonism Relat Disord; 2014 Jan 01; 20(1):75-81. PubMed ID: 24094725
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  • 59. 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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