Article
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2009
Chan Sherine S L, Copeland William C
Abstract excerpt
DNA polymerase gamma (pol gamma) 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 gamma, is a major locus for a wide spectrum of mitochondrial diseases with more than 100 known disease mutations. Thus, we need to understand how and why pol gamma defects lead to disease. By using an extensive array of...
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