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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 on chromosome 5q21. We studied two families that both presented a phenotype different than that of the classical form of...

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Identifiers

PMID: 8213830
PMCID: PMC1682310

Genes

APC
FAP

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