文献
J-GLOBAL ID:201802263194621135
整理番号:18A0809952
日本人患者における部分メロシン欠損を引き起こすc.818G>Aのホモ接合型LAMA2変異
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient
著者 (9件):
Kubota Akatsuki
(Department of Neurology, The University of Tokyo, Japan)
,
Ishiura Hiroyuki
(Department of Neurology, The University of Tokyo, Japan)
,
Mitsui Jun
(Department of Neurology, The University of Tokyo, Japan)
,
Sakuishi Kaori
(Department of Neurology, The University of Tokyo, Japan)
,
Iwata Atsushi
(Department of Neurology, The University of Tokyo, Japan)
,
Yamamoto Tomotaka
(Department of Neurology, The University of Tokyo, Japan)
,
Nishino Ichizo
(Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan)
,
Tsuji Shoji
(Department of Neurology, The University of Tokyo, Japan)
,
Shimizu Jun
(Department of Neurology, The University of Tokyo, Japan)
資料名:
Internal Medicine (Web)
(Internal Medicine (Web))
巻:
57
号:
6
ページ:
877-882(J-STAGE)
発行年:
2018年
JST資料番号:
U0033A
ISSN:
1349-7235
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
日本 (JPN)
言語:
英語 (EN)