Mutation-specific effects in germline transmission of pathogenic mtDNA variants

STUDY QUESTION: The primary objective was to assess whether germline selection events play a role during the inheritance of pathogenic mitochondrial DNA (mtDNA) variants and to provide possible underlying mechanisms for this selection. SUMMARY ANSWER: We conclude that inheritance of mtDNA is mutatio...

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Detalhes bibliográficos
Publicado no:Hum Reprod
Main Authors: Otten, Auke BC, Sallevelt, Suzanne CEH, Carling, Phillippa J., Dreesen, Joseph C.F.M., Drüsedau, Marion, Spierts, Sabine, Paulussen, Aimee D.C., de Die-Smulders, Christine E.M., Herbert, Mary, Chinnery, Patrick F., Samuels, David C., Lindsey, Patrick, Smeets, Hubert JM
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551225/
https://ncbi.nlm.nih.gov/pubmed/29850888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/humrep/dey114
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