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The DNA polymerase γ Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2′-deoxyguanosine

Mitochondrial DNA is replicated and repaired by DNA polymerase γ (pol γ), encoded by the POLG gene. The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes. PEO patients with this mutation can further develop parkinsonism or...

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Main Authors: Graziewicz, Maria A., Bienstock, Rachelle J., Copeland, William C.
Formato: Artigo
Idioma:Inglês
Publicado: 2007
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2131726/
https://ncbi.nlm.nih.gov/pubmed/17725985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm227
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