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Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

Diseases of the colon and rectum - 1 Dec 2007

De la Fuente Marjorie K, Alvarez Karin P, Letelier Alejandro J, Bellolio Felipe, Acuña Mariana L, León Francisca S, Pinto Eliana, Carvallo Pilar, López-Köstner Francisco

Abstract excerpt

PURPOSE: Familial adenomatous polyposis is characterized by the development of hundreds of adenomatous polyps located mainly in the colon and rectum. Patients with familial adenomatous polyposis who do not receive treatment will develop cancer before aged 40 years. This disease is caused by germline mutations in the adenomatous polyposis coli gene. Different studies have shown a correlation between the location...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17963004
DOI: 10.1007/s10350-007-9044-z

Genes

APC

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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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