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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Autori principali: Moreno-Loshuertos, Raquel, Ferrín, Gustavo, Acín-Pérez, Rebeca, Gallardo, M. Esther, Viscomi, Carlo, Pérez-Martos, Acisclo, Zeviani, Massimo, Fernández-Silva, Patricio, Enríquez, José Antonio
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2011
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Research Article
Accesso online: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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