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Modulation of the W748S mutation in DNA polymerase γ by the E1143G polymorphism in mitochondrial disorders
DNA polymerase gamma (pol γ) is required for replication and repair of mitochondrial DNA. Over 80 mutations in POLG, the gene encoding the catalytic subunit of pol γ, have been linked with disease. The W748S mutation in POLG is the most common mutation in ataxia-neuropathy spectrum disorders and is...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2006
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1780027/ https://ncbi.nlm.nih.gov/pubmed/17088268 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddl424 |
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