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Article

Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status.

Gut - 1 Nov 1998

Heinimann K, Müllhaupt B, Weber W, Attenhofer M, Scott R J, Fried M, Martinoli S, Müller H, Dobbie Z

Abstract excerpt

BACKGROUND: Familial adenomatous polyposis (FAP) is a clinically well defined hereditary disease caused by germline mutations within the adenomatous polyposis coli (APC) gene. Although several techniques are applied in the mutation analysis of FAP kindreds about 20-50% of cases remain unclear, with no APC mutation identified (APC negative). AIMS: To delineate phenotypic differences between APC positive and APC...

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Source

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Identifiers

PMID: 9824350
DOI: 10.1136/gut.43.5.675
PMCID: PMC1727303

Genes

APC
FAP

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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