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Article

The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene.

Gastroenterology - 1 Jul 1997

Gardner R J, Kool D, Edkins E, Walpole I R, Macrae F A, Nasioulas S, Scott W J

Abstract excerpt

Familial adenomatous polyposis (FAP) is caused by mutations in the adenomatous polyposis coli (APC) gene, and different mutations may produce different clinical pictures. Most mutations occur in the 5' half of the gene, and mutations toward the 3' end are rare. The aim of this study was to document the phenotypes in a family with a truncating mutation at codons 1982-1983, one of the most 3' mutations on record....

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Source

Identifiers

PMID: 9207294
DOI: 10.1016/s0016-5085(97)70111-2

Genes

FAP
APC

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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