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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

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第一作者: Charlotte L. Alston
作者单位: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash [1] Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus [2] Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle [3] Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust [4] Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill [5] Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge [6] Department of Pediatrics, Drammen Sykehus [7] Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University [8] Department of Inherited Metabolic Disease, Guy’s and St. Thomas’ NHS Foundation Trusts, Evelina [9] Institute of Human Genetics, Technische Universit?t München [10] Functional Proteomics [11] Institute of Physiology, Czech Academy of Sciences [12] National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human [13] Nuffield Department of Women’s and Reproductive Health, University of Oxford [14] Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University [15] Trevor Mann Baby Unit, Brighton and Sussex University Hospitals NHS Trust [16] Cologne Center for Genomics, University of Cologne [17]
发布时间 2019-09-20
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The American Journal of Human Genetics

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