PURIFICATION AND FUNCTIONAL CHARACTERIZATION OF HUMAN MITOCHONDRIAL DNA POLYMERASE GAMMA HARBORING DISEASE MUTATIONS

More than 150 different point mutations in POLG, the gene encoding the human mitochondrial DNA polymerase γ (pol γ), cause a broad spectrum of childhood and adult onset diseases like Alpers syndrome, Ataxia-Neuropathy syndrome and progressive external ophthalmoplegia. These disease mutations can aff...

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Bibliografiska uppgifter
Huvudupphovsmän: Kasiviswanathan, Rajesh, Longley, Matthew J., Young, Matthew J., Copeland, William C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2010
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2901396/
https://ncbi.nlm.nih.gov/pubmed/20176107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymeth.2010.02.015
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