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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 phenotypes of the W748S amino acid change, using recombinant human POLG. We measured processive and non-processive DNA...

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Identifiers

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

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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