Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations
Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations
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United States: Public Library of Science
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English
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United States: Public Library of Science
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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, th...
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Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations
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TN_cdi_plos_journals_1313541352
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313541352
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1001379
