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Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions

Mitochondrial genome (mtDNA) mutation causes highly variable clinical features, and its pathogenesis is not fully understood. In this study, we analyzed the heteroplasmic mtDNA mutation C4936T (p.T156I) in ND2 of complex I and the homoplasmic mtDNA mutation A9181G (p.S219G) in ATPase 6 of complex V....

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Bibliografiske detaljer
Udgivet i:FASEB J
Main Authors: Zhang, Chengkang, Huang, Vincent H., Simon, Mariella, Sharma, Lokendra K., Fan, Weiwei, Haas, Richard, Wallace, Douglas C., Bai, Yidong, Huang, Taosheng
Format: Artigo
Sprog:Inglês
Udgivet: Federation of American Societies for Experimental Biology 2012
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6137447/
https://ncbi.nlm.nih.gov/pubmed/22925728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.12-206532
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