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Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in Mitochondrial ATP6 Gene

Probing the pathogenicity and functional consequences of mitochondrial DNA (mtDNA) mutations from patient’s cells and tissues is difficult due to genetic heteroplasmy (co-existence of wild type and mutated mtDNA in cells), occurrence of numerous mtDNA polymorphisms, and absence of methods for geneti...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Su, Xin, Dautant, Alain, Godard, François, Bouhier, Marine, Zoladek, Teresa, Kucharczyk, Roza, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7404254/
https://ncbi.nlm.nih.gov/pubmed/32708436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21145083
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