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Article

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

Human mutation - 1 Jan 1994

Koorey D J, McCaughan G W, Trent R J, Gallagher N D

Abstract excerpt

The familial adenomatous polyposis gene, APC, has recently been identified. Detection of APC mutations will facilitate genetic screening in family members at risk for this disease. The length of APC makes it impractical to examine the entire coding sequence in each new family encountered. Identif...

Topics

Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Adult
Australia
Base Sequence
Child
DNA
DNA Mutational Analysis
Exons
Female
Genes, APC
Genetic Testing
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Neoplasm Proteins

Pedigree

Source

Identifiers

PMID: 8118461
DOI: 10.1002/humu.1380030103

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8118461-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.PMID 8118461Read ↗

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APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal CancerSemantic proximity Read ↗

A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.Semantic proximity Read ↗

APC germline mutations identified in Czech patients with familial adenomatous polyposis.Semantic proximity Read ↗

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APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous PolyposisSemantic proximity Read ↗

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317QSemantic proximity Read ↗

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