文献
J-GLOBAL ID:200902259623795140
整理番号:08A0574665
STXBP1(MUNC18-1)をコードする遺伝子のde novo突然変異によって早期乳児てんかん性脳症が引き起こされる
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
著者 (18件):
SAITSU Hirotomo
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
KATO Mitsuhiro
(Yamagata Univ. School of Medicine, Yamagata, JPN)
,
MIZUGUCHI Takeshi
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
HAMADA Keisuke
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
OSAKA Hitoshi
(Kanagawa Children’s Medical Center, Yokohama, JPN)
,
TOHYAMA Jun
(Nishi-Niigata Chuo National Hospital, Niigata, JPN)
,
URUNO Katsuhisa
(Yamagata National Hospital, Yamagata, JPN)
,
KUMADA Satoko
(Tokyo Metropolitan Neurological Hospital, Fuchu, JPN)
,
NISHIYAMA Kiyomi
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
NISHIMURA Akira
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
OKADA Ippei
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
YOSHIMURA Yukiko
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
HIRAI Syu-ichi
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
KUMADA Tatsuro
(Hamamatsu Univ. School of Medicine, Hamamatsu, JPN)
,
HAYASAKA Kiyoshi
(Yamagata Univ. School of Medicine, Yamagata, JPN)
,
FUKUDA Atsuo
(Hamamatsu Univ. School of Medicine, Hamamatsu, JPN)
,
OGATA Kazuhiro
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
MATSUMOTO Naomichi
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
資料名:
Nature Genetics
(Nature Genetics)
巻:
40
号:
6
ページ:
782-788
発行年:
2008年06月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)