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Article

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.

European journal of human genetics : EJHG - 1 Jan 2000

Rovio A, Tiranti V, Bednarz A L, Suomalainen A, Spelbrink J N, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F, Jacobs H T

Abstract excerpt

The human nuclear gene (POLG) for the catalytic subunit of mitochondrial DNA polymerase (DNA polymerase gamma) contains a trinucleotide CAG microsatellite repeat within the coding sequence. We have investigated the frequency of different repeat-length alleles in populations of diseased and healthy individuals. The predominant allele of 10 CAG repeats was found at a very similar frequency (approximately 88%) in...

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Source

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PMID: 10196696
DOI: 10.1038/sj.ejhg.5200244

Genes

POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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