Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
scientific article published on December 2016
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author: Ann Saada, Richard J Rodenburg, Homa Majd, Cristina Dallabona, Martin S King, Katrin Õunap, Robert McFarland, Edmund R.S. Kunji, Robert William Taylor, Charlotte L Alston, Pirjo Isohanni, Karit Reinson, Tiziana Lodi, Alon Haham, Roshni Vara, Charu Deshpande, Sanna Puusepp, Orly Elpeleg, Ileana Ferrero, Nitay D Fraenkel, Inês C R Barbosa, Penelope E Bonnen
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