文献
J-GLOBAL ID:201302274853416395
整理番号:13A0365991
ミトコンドリア病:MGME1の機能喪失性変異はmtDNAの複製を障害し多岐にわたるミトコンドリア病の原因となる
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
著者 (29件):
KORNBLUM Cornelia
(Univ. Bonn Medical Center, Bonn, DEU)
,
NICHOLLS Thomas J
(Medical Res. Council (MRC) Mitochondrial Biology Unit, Cambridge, GBR)
,
RORBACH Joanna
(Medical Res. Council (MRC) Mitochondrial Biology Unit, Cambridge, GBR)
,
MINCZUK Michal
(Medical Res. Council (MRC) Mitochondrial Biology Unit, Cambridge, GBR)
,
HAACK Tobias B
(Technische Univ. Muenchen, Munich, DEU)
,
DANHAUSER Katharina
(Technische Univ. Muenchen, Munich, DEU)
,
IUSO Arcangela
(Technische Univ. Muenchen, Munich, DEU)
,
WIELAND Thomas
(Technische Univ. Muenchen, Munich, DEU)
,
STROM Tim M
(Technische Univ. Muenchen, Munich, DEU)
,
MEITINGER Thomas
(Technische Univ. Muenchen, Munich, DEU)
,
PROKISCH Holger
(Technische Univ. Muenchen, Munich, DEU)
,
SCHOELER Susanne
(Univ. Bonn Medical Center, Bonn, DEU)
,
PEEVA Viktoriya
(Univ. Bonn Medical Center, Bonn, DEU)
,
HALLMANN Kerstin
(Univ. Bonn Medical Center, Bonn, DEU)
,
ZSURKA Gabor
(Univ. Bonn Medical Center, Bonn, DEU)
,
KUNZ Wolfram S
(Univ. Bonn Medical Center, Bonn, DEU)
,
SCIACCO Monica
(Univ. Milan, Milan, ITA)
,
MOGGIO Maurizio
(Univ. Milan, Milan, ITA)
,
RONCHI Dario
(Univ. Milan, Milan, ITA)
,
COMI Giacomo P
(Univ. Milan, Milan, ITA)
,
QUINZII Catarina M
(Columbia Univ. Medical Center, New York, USA)
,
DIMAURO Salvatore
(Columbia Univ. Medical Center, New York, USA)
,
CALVO Sarah E
(Massachusetts General Hospital, Massachusetts, USA)
,
MOOTHA Vamsi K
(Massachusetts General Hospital, Massachusetts, USA)
,
CALVO Sarah E
(Harvard Medical School, Massachusetts, USA)
,
MOOTHA Vamsi K
(Harvard Medical School, Massachusetts, USA)
,
CALVO Sarah E
(Broad Inst., Massachusetts, USA)
,
MOOTHA Vamsi K
(Broad Inst., Massachusetts, USA)
,
KLOPSTOCK Thomas
(Ludwig-Maximilians-Univ. Muenchen, Munich, DEU)
資料名:
Nature Genetics
(Nature Genetics)
巻:
45
号:
2
ページ:
214-219
発行年:
2013年02月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)