文献
J-GLOBAL ID:201902258265874830
整理番号:19A0713717
新しいTP53RK変異によるGalway-Mowat症候群の家族性症例:症例報告【JST・京大機械翻訳】
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
著者 (13件):
Hyun Hye Sun
(Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea)
,
Kim Seong Heon
(Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, South Korea)
,
Park Eujin
(Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea)
,
Cho Myung Hyun
(Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea)
,
Kang Hee Gyung
(Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea)
,
Kang Hee Gyung
(Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, South Korea)
,
Lee Hyun Soon
(Renal Pathology Lab, Hankook Kidney and Diabetes Institute, Seoul, South Korea)
,
Miyake Noriko
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
,
Matsumoto Naomichi
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
,
Tsukaguchi Hiroyasu
(Second Department of Internal Medicine, Kansai Medical University, Osaka, Japan)
,
Cheong Hae Il
(Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea)
,
Cheong Hae Il
(Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea)
,
Cheong Hae Il
(Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea)
資料名:
BMC Medical Genetics (Web)
(BMC Medical Genetics (Web))
巻:
19
号:
1
ページ:
131
発行年:
2018年
JST資料番号:
U7307A
ISSN:
1471-2350
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)