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J-GLOBAL ID：200902227204073879   Reference number：05A0335653

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms

Rett症候群の日本人患者におけるメチル-CpG結合蛋白2遺伝子(MECP2)変異

Author (9)： FUKUDA Takayuki (Ehime Univ. School of Medicine, Ehime, JPN) ,  YAMASHITA Yushiro (Kurume Univ. School of Medicine, Fukuoka, JPN) ,  NAGAMITSU Shinichiro (Kurume Univ. School of Medicine, Fukuoka, JPN) ,  MIYAMOTO Kenichi (Ehime Univ. School of Medicine, Ehime, JPN) ,  JIN Jing-Ji (Ehime Univ. School of Medicine, Ehime, JPN) ,  OHMORI Iori (Okayama Univ. Graduate School of Medicine and Dentistry, Okayama, JPN) ,  OHTSUKA Yoko (Okayama Univ. Graduate School of Medicine and Dentistry, Okayama, JPN) ,  KUWAJIMA Katsuko (Ibaraki Prefectural Handicapped Children’s Center, Ibaraki, JPN) ,  ENDO Shoichi (Kagawa Children’s Hospital, Kagawa, JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 27  Issue： 3  Page： 211-217  Publication year： Apr. 2005 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： mental retardation ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Reference (41)：

• HAGBERG, BA. A progressive synfrome of autism, dementia, ataxia, and loss of purposeful hand use in girls : Rett's syndrome : Report of 35 cases. Ann Neurol. 1983, 14, 471-479
• RETT, A. Rett syndrome : history and general overview. Am J Med Genet. 1986, 1, 21-25
• The Rett syndrome diagnostic criteria work group. Diagnostic criteria for Rett syndrome. Ann Neurol. 1988, 23, 425-428
• HAGBERG, BA. Rett variants : a suggested model for inclusion criteria. Pediatr Neurol. 1994, 11, 5-11
• AMIR, RE. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Gene. 1999, 23, 185-188

Terms in the title (8)： Rett症候群 ,  日本人 ,  患者 ,  CpG ,  蛋白 ,  遺伝子 ,  MeCP2 ,  変異