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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2011
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| Materias: | |
| 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 |