Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

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Article

Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

American journal of human genetics - 1 Nov 1993

Stella A, Resta N, Gentile M, Susca F, Mareni C, Montera M P, Guanti G

Abstract excerpt

Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located o...

Topics

Adenomatous Polyposis Coli
Base Sequence
DNA Primers
Female
Genes, APC
Genetic Linkage
Genotype
Humans
Male
Molecular Sequence Data
Pedigree
Phenotype
Polymerase Chain Reaction

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Identifiers

PMID: 8213830
PMCID: PMC1682310

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8213830-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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