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Article

Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations.

PLoS genetics - 1 Apr 2011

Moreno-Loshuertos Raquel, Ferrín Gustavo, Acín-Pérez Rebeca, Gallardo M Esther, Viscomi Carlo, Pérez-Martos Acisclo, Zeviani Massimo, Fernández-Silva Patricio, Enríquez José Antonio

Abstract excerpt

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 obvious interest for understanding human pathology, they can be excellent experimental examples to model evolution and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21533077
DOI: 10.1371/journal.pgen.1001379
PMCID: PMC3080857

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