文献
J-GLOBAL ID:201802275686423825
整理番号:18A0974039
2姉妹における早期発症てんかん性脳症を引き起こすUBA5における複合ヘテロ接合変異【JST・京大機械翻訳】
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
著者 (23件):
Arnadottir Gudny A.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Jensson Brynjar O.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Marelsson Sigurdur E.
(Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland)
,
Sulem Gerald
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Oddsson Asmundur
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Kristjansson Ragnar P.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Benonisdottir Stefania
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Gudjonsson Sigurjon A.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Masson Gisli
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Thorisson Gudmundur A.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Saemundsdottir Jona
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Magnusson Olafur Th.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Jonasdottir Adalbjorg
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Jonasdottir Aslaug
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Sigurdsson Asgeir
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Gudbjartsson Daniel F.
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Gudbjartsson Daniel F.
(School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland)
,
Thorsteinsdottir Unnur
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Thorsteinsdottir Unnur
(Faculty of Medicine, University of Iceland, Reykjavik, Iceland)
,
Arngrimsson Reynir
(Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland)
,
Sulem Patrick
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Stefansson Kari
(deCODE Genetics/Amgen, Inc., Reykjavik, Iceland)
,
Stefansson Kari
(Faculty of Medicine, University of Iceland, Reykjavik, Iceland)
資料名:
BMC Medical Genetics (Web)
(BMC Medical Genetics (Web))
巻:
18
号:
1
ページ:
103
発行年:
2017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)