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Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

Mitochondrial DNA (mtDNA) mutations cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate (“mutant load”) accounts for the wide phenotypic spectrum observed in carriers. Owing to the absence of therapy, couples at r...

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Detalles Bibliográficos
Autores principales: Monnot, Sophie, Gigarel, Nadine, Samuels, David C, Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoit, Martinovic, Jelena, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058134/
https://www.ncbi.nlm.nih.gov/pubmed/21120938
http://dx.doi.org/10.1002/humu.21417