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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...

詳細記述

保存先:
書誌詳細
出版年:Mitochondrion
主要な著者: Elson, Joanna L., Smith, Paul M., Greaves, Laura C., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Vila-Sanjurjo, Antón
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier Science 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4665369/
https://ncbi.nlm.nih.gov/pubmed/26349026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2015.08.004
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