De novo mtDNA point mutations are common and have a low recurrence risk

BACKGROUND: Severe, disease-causing germline mitochondrial (mt)DNA mutations are maternally inherited or arise de novo. Strategies to prevent transmission are generally available, but depend on recurrence risks, ranging from high/unpredictable for many familial mtDNA point mutations to very low for...

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Detalles Bibliográficos
Autores principales: Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Mitochondrial Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502310/
https://www.ncbi.nlm.nih.gov/pubmed/27450679
http://dx.doi.org/10.1136/jmedgenet-2016-103876

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