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Article

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Human mutation - 1 May 2007

Hayward Bruce E, De Vos Michel, Valleley Elizabeth M A, Charlton Ruth S, Taylor Graham R, Sheridan Eamonn, Bonthron David T

Abstract excerpt

Mutations of the PMS2 DNA repair gene predispose to a characteristic range of malignancies, with either childhood onset (when both alleles are mutated) or a partially penetrant adult onset (if heterozygous). These mutations have been difficult to detect, due to interference from a family of pseudogenes located on chromosome 7. One of these, the PMS2CL pseudogene, lies within a 100-kb inverted duplication (inv...

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Share to Adenosine Triphosphatases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 7

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Source

Identifiers

PMID: 17253626
DOI: 10.1002/humu.20457

Genes

PMS2

Provenance

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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