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The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease

Mitochondrial DNA mutations are well recognized as an important cause of disease, with over two hundred variants in the protein encoding and mt-tRNA genes associated with human disorders. In contrast, the two genes encoding the mitochondrial rRNAs (mt-rRNAs) have been studied in far less detail. Thi...

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Detalles Bibliográficos
Autores principales:	Elson, Joanna L., Smith, Paul M., Greaves, Laura C., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Vila-Sanjurjo, Antón
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Science 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665369/ https://www.ncbi.nlm.nih.gov/pubmed/26349026 http://dx.doi.org/10.1016/j.mito.2015.08.004

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