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Article

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

Human mutation - 1 May 2004

De Rosa Marina, Dourisboure Ricardo J, Morelli Gemma, Graziano Alfredo, Gutiérrez Alejandro, Thibodeau Stephen, Halling Kevin, Avila Karina Collia, Duraturo Francesca, Podesta Ernesto J, Izzo Paola, Solano Angela R

Abstract excerpt

We examined the adenomatous polyposis coli (APC) gene for disease-causing mutations in 51 unrelated Argentinean probands affected by familial adenomatous polyposis (FAP). Using a combination of the protein truncation test, the single strand conformation polymorphism technique, DNA sequencing and quantitative PCR analysis, we identified the specific mutation in 39 (average age: 28.4 years) of the 51 probands...

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Source

Identifiers

PMID: 15108288
DOI: 10.1002/humu.9237

Genes

APC
FAP

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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