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Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down Syndrome

Individuals with Down syndrome (DS, trisomy 21) exhibit a pro-oxidative cellular environment as well as mitochondrial dysfunction. Increased oxidative stress may damage the mitochondrial DNA (mtDNA). The coexistence of mtDNA variants in a cell or tissue (i.e., heteroplasmy) may contribute to mitocho...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Hefti, Erik, Bard, Jonathan, Blanco, Javier G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5154832/
https://ncbi.nlm.nih.gov/pubmed/27594409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23071
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