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Article

Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.

Journal of medical genetics - 1 Nov 1995

Buerstedde J M, Alday P, Torhorst J, Weber W, Müller H, Scott R

Abstract excerpt

The cancer predisposition in most HNPCC families is believed to be associated with mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We searched for mutations in our collection of 10 Swiss HNPCC families by sequencing the exons and exon/intron boundaries of the hMSH2 and hMLH1 genes. In four families we found different mutations which are expected to lead to protein truncations of either the...

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Identifiers

PMID: 8592341
DOI: 10.1136/jmg.32.11.909
PMCID: PMC1051749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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