SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
- Author
- GHEZZI, Daniele1 ; GOFFRINI, Paola2 ; INVERNIZZI, Federica1 ; FERRERO, Ileana2 ; ZEVIANI, Massimo1 ; UZIEL, Graziella3 ; HORVATH, Rita4 5 ; KLOPSTOCK, Thomas5 ; LOCHMÜLLER, Hanns5 6 ; D'ADAMO, Pio7 ; GASPARINI, Paolo7 ; STROM, Tim M8 ; PROKISCH, Holger8
[1] Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for Study of Children's Mitochondrial Disorders, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy
[2] Department of Genetics, Anthropology, Evolution, University of Parma, Parma, Italy
[3] Department of Child Neurology, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy
[4] Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom
[5] Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University, Munich, Germany
[6] Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
[7] Department of Medical Genetics, IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
[8] Institute of Human Genetics, Helmholtz Zentrum, Munich, Germany - Source
Nature genetics. 2009, Vol 41, Num 6, pp 654-656, 3 p ; ref : 15 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Leucoencéphalopathie
- Keyword (en)
- Leucoencephalopathy
- Keyword (es)
- Leucoencefalopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21543375
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.378 
https://dx.doi.org/10.1038/ng.378
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