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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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Détails bibliographiques
Auteurs principaux: Stumpf, Jeffrey D., Copeland, William C.
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Accès en ligne: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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