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Journal Abstract Search

292 related items for PubMed ID: 10453196

  • 1. Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
    Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T.
    Pediatr Int; 1999 Aug; 41(4):409-13. PubMed ID: 10453196
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  • 3. 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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  • 7. 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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  • 8. Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
    Zong YN, Kong XD.
    Genet Mol Res; 2015 Dec 29; 14(4):18764-70. PubMed ID: 26782526
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  • 9. Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
    Zhu HW, Tao ZB, Su G, Jin QY, Zhao LT, Zhu JR, Yan J, Yu TY, Ding JX, Li YM.
    World J Pediatr; 2017 Aug 29; 13(4):387-391. PubMed ID: 28856630
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  • 10. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
    Li XH, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, Zhou F, De-Min Y, Han Y, Zhang DH, Gong QM, Lu ZM, Kong XF, Wang JS, Zhang XX.
    BMC Med Genet; 2011 Jan 11; 12():6. PubMed ID: 21219664
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  • 13. Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
    Loudianos G, Zappu A, Lepori MB, Incollu S, Dessì V, Mameli E, Garrucciu G, De Virgiliis S, Cao A.
    Dig Liver Dis; 2013 Apr 11; 45(4):342-5. PubMed ID: 23219664
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  • 14. Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography.
    Weirich G, Cabras AD, Serra S, Coni PP, Nurchi AM, Faa G, Höfler H.
    Prev Med; 2002 Sep 11; 35(3):278-84. PubMed ID: 12202071
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  • 15. 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 11; 94(10):1184-8. PubMed ID: 22145502
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  • 16. Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
    Gu S, Yang H, Qi Y, Deng X, Zhang L, Guo Y, Huang Q, Li J, Shi X, Song Z, Deng H.
    PLoS One; 2013 Oct 11; 8(7):e66526. PubMed ID: 23843956
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  • 17. 4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.
    Majumdar R, Al Jumah M, Fraser M.
    Mol Pathol; 2003 Oct 11; 56(5):302-4. PubMed ID: 14514926
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  • 18. 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 11; 13(3):CS38-40. PubMed ID: 17325640
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  • 19. Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
    Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K.
    Hum Mutat; 1998 Mar 11; Suppl 1():S320-2. PubMed ID: 9452121
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  • 20. 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; 11(3):255-60. PubMed ID: 26253413
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