Art

J-GLOBAL ID：202002287486929801   Reference number：20A0887764

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS

ロングリード配列決定はCANVASの日本人症例におけるRFC1の病原性ヌクレオチドリピート伸長を同定する

Author (21)： Nakamura Haruko (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Doi Hiroshi (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Mitsuhashi Satomi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Miyatake Satoko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Katoh Kazutaka (Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan) ,  Katoh Kazutaka (Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan) ,  Frith Martin C. (Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan) ,  Frith Martin C. (Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan) ,  Frith Martin C. (Computational Bio Big-Data Open Innovation Laboratory, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan) ,  Asano Tetsuya (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Kudo Yosuke (Department of Neurology, Yokohama Brain and Spine Center, Yokohama, Japan) ,  Ikeda Takuya (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Kubota Shun (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Kunii Misako (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Kitazawa Yu (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Tada Mikiko (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Okamoto Mitsuo (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Joki Hideto (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Takeuchi Hideyuki (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Tanaka Fumiaki (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
Material： Journal of Human Genetics (Web)
Volume： 65  Issue： 5  Page： 475-480  Publication year： 2020 
JST Material Number： U1593A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： BEAN1遺伝子 ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=20A0887764&from=J-GLOBAL&jstjournalNo=U1593A") }}

JST classification (1)： Nervous system diseases  (GN03000O)

Terms in the title (7)： リード ,  日本人 ,  症例 ,  病原性 ,  ヌクレオチド ,  リピート伸長 ,  同定