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Journal Abstract Search

267 related items for PubMed ID: 23962630

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  • 2. 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; 21(2):245-8. PubMed ID: 16211609
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  • 7. A genetic study of Wilson's disease in the United Kingdom.
    Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.
    Brain; 2013 May; 136(Pt 5):1476-87. PubMed ID: 23518715
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  • 8. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
    Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.
    Liver Int; 2011 Jul; 31(6):831-9. PubMed ID: 21645214
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  • 9. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
    Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L.
    World J Gastroenterol; 2008 Oct 14; 14(38):5876-9. PubMed ID: 18855987
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  • 10. Copper metabolism after living donor liver transplantation for hepatic failure of Wilson's disease from a gene mutated donor.
    Kobayashi S, Ochiai T, Hori S, Suzuki T, Shimizu T, Gunji Y, Shimada H, Yamamoto S, Ogawa A, Kohno Y, Sunaga M, Shimazu M, Tanaka K.
    Hepatogastroenterology; 2001 Oct 14; 48(41):1259-61. PubMed ID: 11677941
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  • 11. 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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  • 12. 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 Sep 23; 25(6):277-82. PubMed ID: 17264425
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  • 14. Gene symbol: ATP7B. Disease: Wilson's disease.
    Margarit E.
    Hum Genet; 2005 Dec 23; 118(3-4):544-5. PubMed ID: 16521294
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  • 15. Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
    Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy GM.
    World J Gastroenterol; 2008 Aug 07; 14(29):4672-6. PubMed ID: 18698682
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  • 16. Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
    Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH.
    PLoS One; 2016 Aug 07; 11(12):e0168372. PubMed ID: 27992490
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  • 17. A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
    Chen L, Li X, Zheng Z, Lu X, Lin M, Pan C, Liu J.
    Gene; 2014 Mar 15; 538(1):204-6. PubMed ID: 24476933
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  • 19. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
    Lu CX, Qing Lin, Huang WQ, Tzeng CM.
    Eur J Med Genet; 2014 Sep 15; 57(9):498-502. PubMed ID: 24878384
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