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Missense mutation (I143T) in a Japanese patient with Canavan disease

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

10.1002/humu.1380110196

1098-1004

Keiko Kobayashi, Seiichi Tsujino, Takanori Ezoe, Hiroshi Hamaguchi, Kenji Nihei, Norio Sakuragawa,

Folate and B Vitamins Research

Human MutationVolume 11, Issue S1 p. S308-S309 Mutation in BriefFree Access Missense mutation (I143T) in a Japanese patient with Canavan disease Keiko Kobayashi, Keiko Kobayashi Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanSearch for more papers by this authorSeiichi Tsujino, Corresponding Author Seiichi Tsujino Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanDepartment of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187 JapanSearch for more papers by this authorTakanori Ezoe, Takanori Ezoe Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanSearch for more papers by this authorHiroshi Hamaguchi, Hiroshi Hamaguchi Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for Handicapped, Tokyo, JapanSearch for more papers by this authorKenji Nihei, Kenji Nihei Department of Neurology, National Children's Hospital, Tokyo, JapanSearch for more papers by this authorNorio Sakuragawa, Norio Sakuragawa Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanSearch for more papers by this author Keiko Kobayashi, Keiko Kobayashi Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanSearch for more papers by this authorSeiichi Tsujino, Corresponding Author Seiichi Tsujino Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanDepartment of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187 JapanSearch for more papers by this authorTakanori Ezoe, Takanori Ezoe Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanSearch for more papers by this authorHiroshi Hamaguchi, Hiroshi Hamaguchi Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for Handicapped, Tokyo, JapanSearch for more papers by this authorKenji Nihei, Kenji Nihei Department of Neurology, National Children's Hospital, Tokyo, JapanSearch for more papers by this authorNorio Sakuragawa, Norio Sakuragawa Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, JapanSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110196Citations: 13AboutPDF 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 No abstract is available for this article. References Hamaguchi H, Nihei K, Nakamoto N, Ezoe T, Naito H, Hara M, Yokota K, Inoue Y, Matsumoto I (1993) A case of Canavan disease: The first biochemically proven case in a Japanese girl. Brain Dev 15: 367– 371. Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet 5: 118– 123. Kaul R, Balamurugan K, Gao GP, Matalon R (1994a) Canavan disease: Genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. Genomics 21: 364– 370. Kaul R, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R (1994b) Canavan disease: Mutations among Jewish and non-Jewish patients. Am J Hum Genet 55: 34– 41. Kaul R, Gao GP, Michals K, Whelan DT, Levin S, Matalon R (1995) Novel cys152arg missense mutation in Arab patient with Canavan disease. Hum Mut 5: 269– 271. Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RBH, Clarke JTR (1996) Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am J Hum Genet 59: 95– 102. Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Caravan disease. Am J Med Genet 29: 463– 471. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA: The amplification refractory mutation system (ARMS). Nucleic Acid Res 17: 2503– 2516. Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, Elpeleg ON (1995) The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet 57: 572– 580. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S308-S309 ReferencesRelatedInformation