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Article

Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.

Biochimica et biophysica acta - 1 Jun 2010

Palin Eino J H, Lesonen Annamari, Farr Carol L, Euro Liliya, Suomalainen Anu, Kaguni Laurie S

Abstract excerpt

Mitochondrial DNA polymerase, POLG, is the sole DNA polymerase found in animal mitochondria. In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. We investigated the biochemical ph...

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Source

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Identifiers

PMID: 20153822
DOI: 10.1016/j.bbadis.2010.02.003
PMCID: PMC2860656

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20153822-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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