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(primates) ,...
Semi thesaurus term： *Alexander Disease ,...

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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