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Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
Mutations in mtDNA are responsible for a variety of mitochondrial diseases, where the mitochondrial tRNA(Leu(UUR)) gene has especially hot spots for pathogenic mutations. Clinical features often depend on the tRNA species and/or positions of the mutations; however, molecular pathogenesis elucidating...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1129107/ https://ncbi.nlm.nih.gov/pubmed/15870203 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0500563102 |
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