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Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood sa...

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Detalhes bibliográficos
Main Authors: Elliott, Hannah R., Samuels, David C., Eden, James A., Relton, Caroline L., Chinnery, Patrick F.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2495064/
https://ncbi.nlm.nih.gov/pubmed/18674747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.07.004
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