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Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

DNA polymerase γ (pol γ), encoded by POLG, is responsible for replicating human mitochondrial DNA. About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes. Becaus...

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Autori principali: Stumpf, Jeffrey D., Copeland, William C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3046768/
https://ncbi.nlm.nih.gov/pubmed/20927567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00018-010-0530-4
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