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Article

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Human molecular genetics - 1 Jun 2010

Stumpf Jeffrey D, Bailey Christopher M, Spell Diana, Stillwagon Matthew, Anderson Karen S, Copeland William C

Abstract excerpt

DNA polymerase gamma (pol gamma) is responsible for replication and repair of mitochondrial DNA (mtDNA). Over 150 mutations in POLG (which encodes pol gamma) have been discovered in patients with mitochondrial disorders including Alpers, progressive external ophthalmoplegia and ataxia-neuropathy...

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Source

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Identifiers

PMID: 20185557
DOI: 10.1093/hmg/ddq089
PMCID: PMC2865372

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20185557-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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