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Article

[Detection of a founder mutation in an Argentine family with hereditary non polyposis colorectal cancer].

Medicina - 1 Jan 2010

Gómez Laura, Adi José, Ibarra Jorge, Roqué María

Abstract excerpt

Hereditary non polyposis colorectal cancer (HNPCC) has been related to mutations in the DNA mismatch repair genes (MLH1, MSH2 y MSH6). Mutation detection analysis requires the complete sequencing of these genes, given the high frequency of family-specific alterations. A point mutation (2269-2270insT) in the last codon of the MLH1 gene has been detected in families from a northern region of Italy (Reggio...

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Source

Identifiers

PMID: 20228021

Genes

MLH1
MSH2
MSH6

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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