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Novel mutations in DNA2 associated with myopathy and mtDNA instability
The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi‐catalytic protein involved in the removal of single strand DNA...
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| Yayımlandı: | Ann Clin Transl Neurol |
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| Asıl Yazarlar: | , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6764641/ https://ncbi.nlm.nih.gov/pubmed/31478350 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50888 |
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