文献
J-GLOBAL ID:201902258124363096
整理番号:19A1945621
SMC1Aのミスセンス変異体はPCDH19関連てんかんに類似した周期的薬剤耐性クラスタ発作を引き起こす【JST・京大機械翻訳】
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy
著者 (10件):
Oguni Hirokazu
(Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan)
,
Nishikawa Aiko
(Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan)
,
Sato Yu
(Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan)
,
Otani Yui
(Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan)
,
Ito Susumu
(Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan)
,
Nagata Satoru
(Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan)
,
Kato Mitsuhiro
(Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8555, Japan)
,
Hamanaka Kohei
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan)
,
Miyatake Satoko
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan)
,
Matsumoto Naomichi
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan)
資料名:
Epilepsy Research
(Epilepsy Research)
巻:
155
ページ:
Null
発行年:
2019年
JST資料番号:
W3270A
ISSN:
0920-1211
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
オランダ (NLD)
言語:
英語 (EN)