Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

The presence of more than one non-severe pathogenic mutation in the same mitochondrial DNA (mtDNA) molecule is very rare. Moreover, it is unclear whether their co-occurrence results in an additive impact on mitochondrial function relative to single mutation effects. Here we describe the first exampl...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Cruz-Bermúdez, Alberto, Vicente-Blanco, Ramiro J., Hernández-Sierra, Rosana, Montero, Mayte, Alvarez, Javier, González Manrique, Mar, Blázquez, Alberto, Martín, Miguel Angel, Ayuso, Carmen, Garesse, Rafael, Fernández-Moreno, Miguel A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4718627/
https://ncbi.nlm.nih.gov/pubmed/26784702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0146816
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