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Article

Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families.

Human mutation - 1 Nov 2003

Isidro G, Matos S, Gonçalves V, Cavaleiro C, Antunes O, Marinho C, Soares J, Boavida M G

Abstract excerpt

Mismatch repair genes MSH2 and MLH1 are the two major genes implicated in hereditary nonpolyposis colorectal cancer. For the past years, we have successfully searched for mutations in both genes in affected Portuguese families, by SSCP and DNA sequencing analysis but because of the advantages tha...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Chromatography, High Pressure Liquid
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to MutS Homolog 2 Protein

Share to Neoplasm Proteins

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 14517962
DOI: 10.1002/humu.9192

Genes

MLH1
MSH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14517962-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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