文献
J-GLOBAL ID:201702251384707340
整理番号:17A1734731
UBA5における両アレル性機能喪失型変異は難治性West症候群と重度の発育不全を引き起こす
Biallelic loss-of-function mutations in UBA5 cause intractable West syndrome and profound failure-to-thrive.
著者 (9件):
SHIRATA Junro
(Saitama Children’s Medical Center, Saitama, JPN)
,
SHIRATA Junro
(Tokyo Medical Univ., Tokyo, JPN)
,
HAMANO Shin-ichiro
(Saitama Children’s Medical Center, Saitama, JPN)
,
IKEMOTO Satoru
(Saitama Children’s Medical Center, Saitama, JPN)
,
MATSUURA Ryuki
(Saitama Children’s Medical Center, Saitama, JPN)
,
NAKASHIMA Mitsuko
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
NAKASHIMA Mitsuko
(Hamamatsu Univ. School of Medicine, Hamamatsu, JPN)
,
MATSUMOTO Naomichi
(Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
,
KATO Mitsuhiro
(Showa Univ. School of Medicine, Tokyo, JPN)
資料名:
てんかん研究
(Journal of the Japan Epilepsy Society)
巻:
35
号:
2
ページ:
432
発行年:
2017年09月29日
JST資料番号:
S0158B
ISSN:
0912-0890
資料種別:
逐次刊行物 (A)
記事区分:
会議録記事
発行国:
日本 (JPN)
言語:
英語 (EN)