文献
J-GLOBAL ID:202002287486929801
整理番号:20A0887764
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
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS
著者 (21件):
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)
資料名:
Journal of Human Genetics (Web)
(Journal of Human Genetics (Web))
巻:
65
号:
5
ページ:
475-480
発行年:
2020年
JST資料番号:
U1593A
ISSN:
1434-5161
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
ドイツ (DEU)
言語:
英語 (EN)