Art

J-GLOBAL ID：201802248781602945   Reference number：18A1181133

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP

GFAPにおけるde novo c.239T>C,P.(F80S)を伴う重度Alexander病の症例

Author (12)： Matsumoto Ayumi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Tulyeu Janyerkye (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Furukawa Rieko (Department of Pediatric Medical Imaging, Jichi Medical University, Tochigi, Japan) ,  Watanabe Chika (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Monden Yukifumi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Nozaki Yasuyuki (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Mori Masato (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Namekawa Michito (Health Administration Center, Saitama Prefectural University, Saitama, Japan) ,  Jimbo Eriko F. (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Aihara Toshinori (Department of Pediatric Medical Imaging, Jichi Medical University, Tochigi, Japan) ,  Yamagata Takanori (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Osaka Hitoshi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan)
Material： Brain & Development  (Brain & Dev)
Volume： 40  Issue： 7  Page： 587-591  Publication year： Aug. 2018 
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 ,...
Semi thesaurus term： genetic variation ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=18A1181133&from=J-GLOBAL&jstjournalNo=W0814A") }}

Author keywords (3)： Alexander disease (AxD) ,  Glial fibrillary acid protein (GFAP) ,  Aggregation

JST classification (2)： Nervous system diseases  (GN03000O) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (3)： GFAP ,  Alexander病 ,  症例