Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Open Access
- 20 September 2018
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 103 (4), 592-601
- https://doi.org/10.1016/j.ajhg.2018.08.013
Abstract
No abstract availableKeywords
Funding Information
- Wellcome Centre for Mitochondrial Research (203105/Z/16/Z)
- MRC Centre for Neuromuscular Diseases (G0601943)
- NIHR Biomedical Research Centre in Age and Age Related Diseases
- Newcastle Molecular Pathology Node
- NHS Highly Specialised Service for Rare Mitochondrial Disorders
- Lily Foundation
- Georg August University Göttingen Faculty of Medicine research program
- Deutsche Forschungsgemeinschaft (SFB 815, project Z1, GA354/14-1)
- Centre of Mitochondrial Biology and Pathology
- Czech Science Foundation (14-36804G)
- German Bundesministerium für Bildung und Forschung
- German network for mitochondrial disorders (01GM1113)
- E-Rare project GENOMIT (01GM1603)
- EU Horizon2020 Collaborative Research Project SOUND (633974)
- Wellcome Trust (090532/Z/09/Z)
- NIHR Biomedical Research Centre Oxford
- NIHR (NIHR-HCS-D12-03-04)
- MRC (MR/J010448/1)
- Wellcome Trust (0948685/Z/10/Z)
- Australian National Health and Medical Research Council (1125390)
- Australian Mitochondrial Disease Foundation
- E-Rare project GENOMIT (I 2741-B26)
- Austrian Science Fonds
- Rosetrees Trust
- Cambridge Biomedical Research Centre
- NIHR BioResource (RG65966)
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