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The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential

Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations...

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Detalles Bibliográficos
Autores principales:	Smith, Paul M., Elson, Joanna L., Greaves, Laura C., Wortmann, Saskia B., Rodenburg, Richard J.T., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Vila-Sanjurjo, Antón
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2014
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900107/ https://www.ncbi.nlm.nih.gov/pubmed/24092330 http://dx.doi.org/10.1093/hmg/ddt490

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