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Article

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Biochimica et biophysica acta - 1 May 2009

Chan Sherine S L, Copeland William C

Abstract excerpt

DNA polymerase gamma is the only known DNA polymerase in human mitochondria and is essential for mitochondrial DNA replication and repair. It is well established that defects in mtDNA replication lead to mitochondrial dysfunction and disease. Over 160 coding variations in the gene encoding the catalytic subunit of DNA polymerase gamma (POLG) have been identified. Our group and others have characterized a number...

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Source

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Identifiers

PMID: 19010300
DOI: 10.1016/j.bbabio.2008.10.007
PMCID: PMC2742478

Genes

POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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