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Article

Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520.

Gut - 1 Oct 1997

Leggett B A, Young J P, Biden K, Buttenshaw R L, Knight N, Cowen A E

Abstract excerpt

BACKGROUND: Familial adenomatous polyposis usually results in colonic polyposis with hundreds to thousands of polyps, congenital hypertrophy of the retinal pigment epithelium (CHRPE), and variable extracolonic features. Recent reports indicate that patients with distal mutations between codons 1445 and 1578 do not express CHRPE and have a high incidence of desmoid tumours. PATIENTS: The family studied has an...

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Identifiers

PMID: 9391252
DOI: 10.1136/gut.41.4.518
PMCID: PMC1891546

Genes

APC

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Source receipt: pubmed, retrieved 7 Sept 2026.

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