Browsing by Subject "MtDNA"

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

Elson, Joanna L.; Smith, Paul M.; Greaves, Laura C.; Lightowlers, Robert N.; Chrzanowska-Lightowlers, Zofia M.A. (Elsevier, 2015)

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 ...
Toward a mtDNA locus-specific mutation database using the LOVD platform

Elson, Joanna L.; Van der Westhuizen, Francois H.; Sweeney, Mary G.; Procaccio, Vincent; Yarham, John W. (Wiley, 2012)

The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, ...