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Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

1998; Wiley; Volume: 11; Issue: S1 Linguagem: Inglês

10.1002/humu.13801101100

1098-1004

Akihiro Yamaguchi, Akihiro Matsuura, Shinichiro Arashima, Yuko Kikuchi, Kokichi Kikuchi,

Iron Metabolism and Disorders

Human MutationVolume 11, Issue S1 p. S320-S322 Mutation in BriefFree Access Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population Akihiro Yamaguchi, Akihiro Yamaguchi Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo, Japan Sapporo City Institute of Public Health, Sapporo, JapanSearch for more papers by this authorDr. Akihiro Matsuura, Corresponding Author Dr. Akihiro Matsuura Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo, JapanDepartment of Pathology, School of Medicine, Sapporo Medical University, S1 W17, Chuo-ku, Sapporo 060, JapanSearch for more papers by this authorShinichiro Arashima, Shinichiro Arashima Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, JapanSearch for more papers by this authorYuko Kikuchi, Yuko Kikuchi Sapporo City Institute of Public Health, Sapporo, JapanSearch for more papers by this authorKokichi Kikuchi, Kokichi Kikuchi Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo, JapanSearch for more papers by this author Akihiro Yamaguchi, Akihiro Yamaguchi Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo, Japan Sapporo City Institute of Public Health, Sapporo, JapanSearch for more papers by this authorDr. Akihiro Matsuura, Corresponding Author Dr. Akihiro Matsuura Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo, JapanDepartment of Pathology, School of Medicine, Sapporo Medical University, S1 W17, Chuo-ku, Sapporo 060, JapanSearch for more papers by this authorShinichiro Arashima, Shinichiro Arashima Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, JapanSearch for more papers by this authorYuko Kikuchi, Yuko Kikuchi Sapporo City Institute of Public Health, Sapporo, JapanSearch for more papers by this authorKokichi Kikuchi, Kokichi Kikuchi Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo, JapanSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.13801101100Citations: 21AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat References Bowcock AM, Tomfohrde J, Weissenbach J, Bonne-Tamir B, St George-Hyslop P, Giagheddu M, Cavalli-Sforza LL, Farrer LA (1994) Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. Am J Hum Genet 54: 79– 87. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet 5: 327– 336. Bull PC and Cox DW (1994) Wilson disease and Menkes disease: new handles on heavy-metal transport. TIG 10: 246– 252. 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Petrukhin K, Chernov Lutsenko I, Ross BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3: 1647– 1656. Reilly M and Cox DW (1993) An epidemiological study of Wilson's disease in the Republic of Ireland. J Neurol Neurosur Psych 56: 298– 300. Shimizu N, Kawase C, Nakazono H, Hemmi H, Shimatake H, Aoki T (1995) A novel RNA splicing mutation in Japanese patients with Wilson disease. Biochem Biophys Res Commun 217: 16– 20. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nature Genet 5: 344– 350. Thomas GR, Bull PC, Roberts EA, Walshe JM, Cox DW (1994) Haplotype studies in Wilson disease. Am J Hum Genet 54: 71– 78. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995a) The Wilson disease gene: spectrum of mutations and their consequences. Nature Genet 9: 210– 217. Thomas GR, Jensson Ó, Gudmundsson G, Thorsteinsson L, Cox DW (1995b) Wilson disease in Iceland: a clinical and genetic study. Am J Hum Genet 56: 1140– 1146. Thomas GR, Roberts EA, Walshe JM, Cox DW (1995c) Haplotypes and mutations in Wilson disease. Am J Hum Genet 56: 1315– 1319. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S320-S322 ReferencesRelatedInformation