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Article

APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.

Gut - 1 Apr 1997

Giardiello F M, Petersen G M, Piantadosi S, Gruber S B, Traboulsi E I, Offerhaus G J, Muro K, Krush A J, Booker S V, Luce M C, Laken S J, Kinzler K W, Vogelstein B, Hamilton S R

Abstract excerpt

BACKGROUND: Familial adenomatous polyposis (FAP) is caused by germline mutation of the adenomatous polyposis coli (APC) gene on chromosome 5q. AIMS: This study assessed genotype-phenotype correlations for extraintestinal lesions in FAP. METHODS: Mutations of the APC gene were compared with the oc...

Topics

Adenomatous Polyposis Coli
Bone Neoplasms
Codon
Cysts
Fundus Oculi
Genes, APC
Genotype
Germ-Line Mutation
Humans
Osteoma
Phenotype
Pigmentation Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Regression Analysis

Skin Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 9176082
DOI: 10.1136/gut.40.4.521
PMCID: PMC1027129

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9176082-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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