Llwytho...
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK...
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| Fformat: | Artigo |
| Iaith: | Inglês |
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Nature Publishing Group
2014
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| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3895632/ https://ncbi.nlm.nih.gov/pubmed/23714749 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.112 |
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