文献
J-GLOBAL ID:201702267635607975
整理番号:17A0207840
韓国人に於ける早期発症進行性非症候性難聴に関係するPRPS1の新たな機能欠損突然変異(DFNX1)の機能的特徴分析:生来の治療介入における潜在的意味
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention
著者 (15件):
Kim So Young
(Department of Otorhinolaryngology-Head and Neck Surgery, CHA Bundang Medical Center, CHA University, Seongnam, South Korea)
,
Kim Ah Reum
(Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea)
,
Kim Nayoung K.D.
(Samsung Genome Institute, Samsung Medical Center, Seoul, South Korea)
,
Lee Chung
(Samsung Genome Institute, Samsung Medical Center, Seoul, South Korea)
,
Lee Chung
(Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Suwon, South Korea)
,
Han Jin Hee
(Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea)
,
Kim Min Young
(Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea)
,
Jeon Eun-Hee
(Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea)
,
Park Woong-Yang
(Samsung Genome Institute, Samsung Medical Center, Seoul, South Korea)
,
Park Woong-Yang
(Department of Molecular Cell Biology, School of Medicine, Sungkyunkwan University, Seoul, South Korea)
,
Mittal Rahul
(Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA)
,
Yan Denise
(Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA)
,
Liu Xue Zhong
(Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA)
,
Choi Byung Yoon
(Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea)
,
Choi Byung Yoon
(Wide River Institute of Immunology, Seoul National University College of Medicine, Hongcheon, South Korea)
資料名:
Journal of Gene Medicine
(Journal of Gene Medicine)
巻:
18
号:
11-12
ページ:
353-358
発行年:
2016年11月
JST資料番号:
W1804A
ISSN:
1099-498X
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
イギリス (GBR)
言語:
英語 (EN)