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Article

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.

Gut - 1 May 1995

Scott R J, van der Luijt R, Spycher M, Mary J L, Müller A, Hoppeler T, Haner M, Müller H, Martinoli S, Brazzola P L

Abstract excerpt

The APC gene is mutated in the germline of people from families where there is a predisposition to develop polyposis coli. Many mutations have been described but the relation between their site and the phenotypic expression of the disease remains unclear. The most commonly seen mutation occurs at codon 1309. Many other mutations have been described towards the 5' end of exon 15 of the APC gene but comparatively...

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Identifiers

PMID: 7797123
DOI: 10.1136/gut.36.5.731
PMCID: PMC1382678

Genes

APC

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Source receipt: pubmed, retrieved 7 Sept 2026.

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