文献
J-GLOBAL ID:201902264844611368
整理番号:19A1423476
PMP22関連疾患:新規スプライス部位受容体変異体と家族内表現型変異性【JST・京大機械翻訳】
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability
著者 (14件):
Kawarai Toshitaka
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Yamazaki Hiroki
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Miyamoto Ryosuke
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Takamatsu Naoko
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Mori Atsuko
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Osaki Yusuke
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Orlacchio Antonio
(Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy)
,
Orlacchio Antonio
(Dipartimento di Scienze Chirurgiche e Biomediche, Universita di Perugia, Perugia, Italy)
,
Nodera Hiroyuki
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
,
Hashiguchi Akihiro
(Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)
,
Higuchi Yujiro
(Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)
,
Yoshimura Akiko
(Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)
,
Takashima Hiroshi
(Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)
,
Kaji Ryuji
(Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
資料名:
Neuromuscular Disorders
(Neuromuscular Disorders)
巻:
29
号:
6
ページ:
422-426
発行年:
2019年
JST資料番号:
W1760A
ISSN:
0960-8966
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)