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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Detalles Bibliográficos
Autores principales: Moreno-Loshuertos, Raquel, Ferrín, Gustavo, Acín-Pérez, Rebeca, Gallardo, M. Esther, Viscomi, Carlo, Pérez-Martos, Acisclo, Zeviani, Massimo, Fernández-Silva, Patricio, Enríquez, José Antonio
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080857/
https://www.ncbi.nlm.nih.gov/pubmed/21533077
http://dx.doi.org/10.1371/journal.pgen.1001379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080857/
https://www.ncbi.nlm.nih.gov/pubmed/21533077
http://dx.doi.org/10.1371/journal.pgen.1001379

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