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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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911200/
https://www.ncbi.nlm.nih.gov/pubmed/31757848
http://dx.doi.org/10.1073/pnas.1906331116