文献
J-GLOBAL ID:202002266991357174
整理番号:20A0188968
二対立遺伝子UqcrFS1変異体はミトコンドリア複合体III欠損,心筋症および脱毛症と関連する【JST・京大機械翻訳】
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
著者 (27件):
Gusic Mirjana
(Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany)
,
Gusic Mirjana
(Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany)
,
Schottmann Gudrun
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany)
,
Schottmann Gudrun
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany)
,
Feichtinger Rene G.
(University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria)
,
Du Chen
(Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany)
,
Scholz Caroline
(Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany)
,
Wagner Matias
(Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany)
,
Wagner Matias
(Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany)
,
Wagner Matias
(Institute of Neurogenomics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany)
,
Mayr Johannes A.
(University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria)
,
Lee Chae-Young
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany)
,
Lee Chae-Young
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany)
,
Yepez Vicente A.
(Department of Informatics, Technical University of Munich, 81371 Garching, Germany)
,
Lorenz Norbert
(Department of Pediatric Cardiology, Municipal Hospital Dresden, 01307 Dresden, Germany)
,
Morales-Gonzalez Susanne
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany)
,
Morales-Gonzalez Susanne
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany)
,
Panneman Daan M.
(Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands)
,
Rotig Agnes
(UMR 1163, Universite Paris Descartes, Sorbonne Paris Cite, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France)
,
Rodenburg Richard J.T.
(Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands)
,
Wortmann Saskia B.
(Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany)
,
Wortmann Saskia B.
(Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany)
,
Wortmann Saskia B.
(University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria)
,
Prokisch Holger
(Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany)
,
Prokisch Holger
(Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany)
,
Schuelke Markus
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany)
,
Schuelke Markus
(Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
106
号:
1
ページ:
102-111
発行年:
2020年
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
オランダ (NLD)
言語:
英語 (EN)