文献
J-GLOBAL ID:201802249802850108
整理番号:18A0356503
常染色体劣性骨形成不全症患者におけるWNT1の新規ミスセンス機能喪失型変異【Powered by NICT】
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient
著者 (8件):
Won Joon Yeon
(Department of Biological Sciences, Sookmyung Women’s University, Seoul 04310, Republic of Korea)
,
Jang Woo Young
(Department of Orthopaedic Surgery, Korea University Anam Hospital, Seoul, Republic of Korea)
,
Lee Hye-Ran
(Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, Republic of Korea)
,
Park Seon Young
(Department of Biological Sciences, Sookmyung Women’s University, Seoul 04310, Republic of Korea)
,
Kim Woo-Young
(Research Center for Cell Fate Control, Sookmyung Women’s University, Seoul 04310, Republic of Korea)
,
Park Jong Hoon
(Department of Biological Sciences, Sookmyung Women’s University, Seoul 04310, Republic of Korea)
,
Kim Yonghwan
(Department of Biological Sciences, Sookmyung Women’s University, Seoul 04310, Republic of Korea)
,
Cho Tae-Joon
(Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, Republic of Korea)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
60
号:
8
ページ:
411-415
発行年:
2017年
JST資料番号:
A1224A
ISSN:
1769-7212
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)