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Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood

The mutation 3243A→G is the most common heteroplasmic pathogenic mitochondrial DNA (mtDNA) mutation in humans, but it is not understood why the proportion of this mution decreases in blood during life. Changing levels of mtDNA heteroplasmy are fundamentally related to the pathophysiology of the mito...

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Détails bibliographiques
Auteurs principaux: Rajasimha, Harsha Karur, Chinnery, Patrick F., Samuels, David C.
Format: Artigo
Langue:Inglês
Publié: American Society of Human Genetics 2008
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427290/
https://ncbi.nlm.nih.gov/pubmed/18252214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.10.007
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