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Article

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.

Human mutation - 1 Nov 2002

Viel Alessandra, Petronzelli Fiorella, Della Puppa Lara, Lucci-Cordisco Emanuela, Fornasarig Mara, Pucciarelli Salvatore, Rovella Valentina, Quaia Michele, Ponz de Leon Maurizio, Boiocchi Mauro, Genuardi Maurizio

Abstract excerpt

In this study we examined a series of 52 patients belonging to hereditary nonpolyposis colorectal cancer (HNPCC) or HNPCC-related families, all who had previously tested negative for mismatch repair (MMR) gene point mutations. Southern blot mutational screening of MLH1 and MSH2 genes was carried out with the aim of detecting large genomic rearrangements and of identifying the molecular mechanisms underlying the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12402334
DOI: 10.1002/humu.10138

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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Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.PMID 12402334Read ↗

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