Art

J-GLOBAL ID：202002258320459949   Reference number：20A1312251

Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan

神経小胞SNARE VAMP2(シナプトブレビン-2)の変異体:日本における最初の報告

Author (8)： Sunaga Yasuo (Department of Pediatrics, JCHO Gunma Central Hospital, Gunma, Japan) ,  Muramatsu Kazuhiro (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Kosaki Kenjirou (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Sugai Kenji (Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Japan) ,  Sugai Kenji (Clinical Department, Soleil Kawasaki Medical Center for the Handicapped, Kawasaki, Japan) ,  Mizuno Takahisa (Department of Pediatrics, JCHO Gunma Central Hospital, Gunma, Japan) ,  Kouno Miyuki (Department of Pediatrics, JCHO Gunma Central Hospital, Gunma, Japan) ,  Tashiro Masahiko (Department of Pediatrics, JCHO Gunma Central Hospital, Gunma, Japan)
Material： Brain & Development  (Brain & Dev)
Volume： 42  Issue： 7  Page： 529-533  Publication year： Aug. 2020 
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： *Membrane Proteins ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (5)： VAMP2 variant ,  Synaptobrevin-2 ,  Non-synonymous variant ,  Hypotonia ,  Purposeful hand movements

JST classification (2)： Nervous system diseases  (GN03000O) ,  Genetic variation  (EC01030Y)

Terms in the title (8)： 神経 ,  小胞 ,  SNARE ,  VAMP2 ,  シナプトブレビン ,  変異体 ,  日本 ,  報告