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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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Hlavní autoři: Chan, Sherine S. L., Copeland, William C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
Témata:
On-line přístup: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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