Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Kyle Thompson, Homa Majd, Christina Dallabona, Karit Reinson, Martin S. King, Charlotte L. Alston, Langping He, Tiziana Lodi, Simon A. Jones, Aviva Fattal-Valevski, Nitay D. Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Sanna Puusepp, Penelope E. BonnenRichard J. Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R.S. Kunji, Robert W. Taylor

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Biochemistry, Genetics and Molecular Biology