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Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees

Heteroplasmy—the presence of multiple mitochondrial DNA (mtDNA) haplotypes in an individual—can lead to numerous mitochondrial diseases. The presentation of such diseases depends on the frequency of the heteroplasmic variant in tissues, which, in turn, depends on the dynamics of mtDNA transmissions...

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Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Main Authors: Zaidi, Arslan A., Wilton, Peter R., Su, Marcia Shu-Wei, Paul, Ian M., Arbeithuber, Barbara, Anthony, Kate, Nekrutenko, Anton, Nielsen, Rasmus, Makova, Kateryna D.
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6911200/
https://ncbi.nlm.nih.gov/pubmed/31757848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1906331116
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