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J-GLOBAL ID：202102245383040329   Reference number：21A0423358

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

NEK1の機能喪失変異体は日本人集団での孤発性ALSのリスク増加と関連する

Author (14)： Naruse Hiroya (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Ishiura Hiroyuki (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Mitsui Jun (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Mitsui Jun (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Takahashi Yuji (Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Matsukawa Takashi (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Matsukawa Takashi (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Yoshimura Jun (Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan) ,  Doi Koichiro (School of Bioscience and Biotechnology, Tokyo University of Technology, Tokyo, Japan) ,  Morishita Shinichi (Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan) ,  Goto Jun (Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan) ,  Toda Tatsushi (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Tsuji Shoji (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Tsuji Shoji (Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan)
Material： Journal of Human Genetics (Web)
Volume： 66  Issue： 3  Page： 237-241  Publication year： 2021 
JST Material Number： U1593A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *Amyotrophic Lateral Sclerosis ,...
Semi thesaurus term： *genetic variation ,...

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JST classification (2)： Nervous system diseases  (GN03000O) ,  Molecular genetics in general  (EC02010J)

Terms in the title (5)： 機能喪失変異 ,  日本人 ,  集団 ,  孤発性ALS ,  リスク