Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

About half of the mitochondrial DNA (mtDNA) mutations causing diseases in humans occur in tRNA genes. Particularly intriguing are those pathogenic tRNA mutations than can reach homoplasmy and yet show very different penetrance among patients. These mutations are scarce and, in addition to their obvi...

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Bibliografiske detaljer
Main Authors: Moreno-Loshuertos, Raquel, Ferrín, Gustavo, Acín-Pérez, Rebeca, Gallardo, M. Esther, Viscomi, Carlo, Pérez-Martos, Acisclo, Zeviani, Massimo, Fernández-Silva, Patricio, Enríquez, José Antonio
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2011
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3080857/
https://ncbi.nlm.nih.gov/pubmed/21533077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001379
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