Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
American Journal Of Human Genetics
Thompson, Kyle K; Majd, Homa H; Dallabona, Cristina C; Reinson, Karit K; King, Martin S MS; Alston, Charlotte L CL; He, Langping L; Lodi, Tiziana T; Jones, Simon A SA; Fattal-Valevski, Aviva A; Fraenkel, Nitay D ND; Saada, Ann A; Haham, Alon A; Isohanni, Pirjo P; Vara, Roshni R; Barbosa, Inês A IA; Simpson, Michael A MA; Deshpande, Charu C; Puusepp, Sanna S; Bonnen, Penelope E PE; Rodenburg, Richard J RJ; Suomalainen, Anu A; Õunap, Katrin K; Elpeleg, Orly O; Ferrero, Ileana I; McFarland, Robert R; Kunji, Edmund R S ER; Taylor, Robert W RW