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Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease
DNA polymerase γ (pol γ) is the only DNA polymerase within the mitochondrion, and is thus essential for replication and repair of mtDNA. POLG, the gene encoding the catalytic subunit of pol γ, is a major locus for a wide spectrum of mitochondrial diseases with more than 100 known disease mutations....
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2886993/ https://ncbi.nlm.nih.gov/pubmed/19513667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-1-59745-521-3_4 |
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