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A functionally dominant mitochondrial DNA mutation.
Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. Sacconi S, et al. Among authors: shanske s. Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12. Hum Mol Genet. 2008. PMID: 18337306 Free PMC article.
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: shanske s. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
197 results