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Article

[Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein].

Acta medica portuguesa - 1 Jan 1998

Albuquerque C, Fidalgo P, Chagas C, Suspiro A, Cravo M, Ramalho E, Leitão C N, Mira F C

Abstract excerpt

Familial adenomatous polyposis of the colon (FAP) is a dominant autosomic disease in which virtually 100% of the affected individuals develop colorectal cancer before the age of forty. The gene responsible for this disease (APC gene) is mutated in the germ line of these patients. The genetic diagnosis of FAP was initially done using linkage analysis. Because 95% of the mutations in APC gene result in a stop codon...

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Source

Identifiers

PMID: 9580364

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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