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- W2040151712 abstract "Significance The frequency of intraindividual mitochondrial DNA (mtDNA) polymorphisms—heteroplasmies—can change dramatically from mother to child owing to the mitochondrial bottleneck at oogenesis. For deleterious heteroplasmies such a change may transform alleles that are benign at low frequency in a mother into disease-causing alleles when at a high frequency in her child. Our study estimates the mtDNA germ-line bottleneck to be small (30–35) and documents a positive association between the number of child heteroplasmies and maternal age at fertilization, enabling prediction of transmission of disease-causing variants and informing mtDNA evolution." @default.
- W2040151712 created "2016-06-24" @default.
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- W2040151712 date "2014-10-13" @default.
- W2040151712 modified "2023-10-11" @default.
- W2040151712 title "Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA" @default.
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- W2040151712 doi "https://doi.org/10.1073/pnas.1409328111" @default.
- W2040151712 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4217420" @default.
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