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Article

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.

Gut - 1 Feb 2004

Bisgaard M L, Ripa R, Knudsen A L, Bülow S

Abstract excerpt

BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14724162
DOI: 10.1136/gut.2003.019042
PMCID: PMC1774914

Genes

APC
FAP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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