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J-GLOBAL ID：201902236426634816   Reference number：19A2349040

Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties

Charcot-Marie-Tooth病タイプ2N関連AARSミスセンス変異(Arg329-to-His)の細胞生物学的性質に及ぼす影響に関するデータ【JST・京大機械翻訳】

Author (10)： Imaizumi Naoko (Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan) ,  Takeuchi Yu (Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan) ,  Hirano Haruka (Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan) ,  Torii Tomohiro (Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA) ,  Seki Yoichi (Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan) ,  Morimoto Takako (Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan) ,  Miyamoto Yuki (Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan) ,  Sakagami Hiroyuki (Department of Anatomy, Kitasato University School of Medicine, Sagamihara, Kanagawa 252-0734, Japan) ,  Yamauchi Junji (Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan) ,  Yamauchi Junji (Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan)
Material： Data in Brief
Volume： 25  Page： Null  Publication year： 2019 
JST Material Number： W3049A  ISSN： 2352-3409  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Charcot-Marie-Tooth (CMT) dise...

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Thesaurus term： mutation ,  myelin ,  *missense mutation ,  Schwann cell ,  Taiwan ,  *variation(biology) ,  French Republic ,  protein ,  peripheral nerve ,  heredity ,  axon ,  synthase
Semi thesaurus term： 遺伝子産物 ,  責任遺伝子 ,  神経病理 , 【Automatic Indexing@JST】

Author keywords (5)： CMT2 ,  CMT2N ,  AARS ,  Disease-associated mutation ,  Cell biological property

JST classification (2)： Structure and chemistry of genes  (EC02020U) ,  Genetic variation  (EC01030Y)

Terms in the title (6)： Charcot-Marie-Tooth病 ,  タイプ ,  ミスセンス変異 ,  HIS ,  細胞 ,  生物学的性質