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Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5757940/
https://ncbi.nlm.nih.gov/pubmed/29253894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007126
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