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Article

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

Human mutation - 1 Feb 2006

Auclair Jessie, Busine Marie Pierre, Navarro Claudine, Ruano Eric, Montmain Gilles, Desseigne Françoise, Saurin Jean Christophe, Lasset Christine, Bonadona Valérie, Giraud Sophie, Puisieux Alain, Wang Qing

Abstract excerpt

A substantial proportion of MLH1 and MSH2 gene mutations in hereditary nonpolyposis colon cancer syndrome (HNPCC) families are characterized by nucleotide substitutions, either within the coding sequence (missense or silent mutations) or in introns. The question of whether these mutations affect the normal function of encoding mismatch DNA repair proteins and thus lead to the predisposition to cancer is...

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Source

Identifiers

PMID: 16395668
DOI: 10.1002/humu.20280

Genes

MLH1
MSH2

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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Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.PMID 16395668Read ↗

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