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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2019
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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 |