文献
J-GLOBAL ID:201202220261474554
整理番号:12A1721057
白質消失疾患患者において明らかになった14q24.3の極微小欠失に起因するEIF2B2変異(Unmasked Mutation)
An Unmasked Mutation of EIF2B2 Due to Submicroscopic Deletion of 14q24.3 in a Patient With Vanishing White Matter Disease
著者 (9件):
SHIMADA Shino
(Tokyo Women’s Medical Univ. Inst. of Integrated Medical Sci., Tokyo, JPN)
,
SHIMADA Shino
(Tokyo Women’s Medical Univ., Tokyo, JPN)
,
MIYA Kazushi
(Toyama Univ. School of Medicine, Toyama, JPN)
,
ODA Nozomi
(Shiga Medical Center for Children, Moriyama, JPN)
,
WATANABE Yuki
(Toyama Univ. School of Medicine, Toyama, JPN)
,
KUMADA Tomohiro
(Shiga Medical Center for Children, Moriyama, JPN)
,
SUGAWARA Midori
(Tokyo Women’s Medical Univ. Inst. of Integrated Medical Sci., Tokyo, JPN)
,
SHIMOJIMA Keiko
(Tokyo Women’s Medical Univ. Inst. of Integrated Medical Sci., Tokyo, JPN)
,
YAMAMOTO Toshiyuki
(Tokyo Women’s Medical Univ. Inst. of Integrated Medical Sci., Tokyo, JPN)
資料名:
American Journal of Medical Genetics. Part A
(American Journal of Medical Genetics. Part A)
巻:
158
号:
7
ページ:
1771-1777
発行年:
2012年07月
JST資料番号:
E0725C
ISSN:
1552-4825
資料種別:
逐次刊行物 (A)
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)