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Article

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation.

Gastroenterology - 1 Jun 1994

Giardiello F M, Krush A J, Petersen G M, Booker S V, Kerr M, Tong L L, Hamilton S R

Abstract excerpt

BACKGROUND/AIMS: Familial adenomatous polyposis is caused by germline mutation of the adenomatous polyposis coli (APC) gene. Affected individuals develop hundreds of colorectal adenomas at young age and can have extracolonic lesions. METHODS: This study evaluated the phenotype of 74 patients with familial adenomatous polyposis from 11 unrelated families with an identical 5-base pair deletion at codon 1309 of the...

Topics

Adenomatous Polyposis Coli
Adult
Codon
Colon
Colorectal Neoplasms
Female
Gene Deletion
Humans
Male
Middle Aged
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8194700
DOI: 10.1016/0016-5085(94)90408-1

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8194700-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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