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Article

Seven novel mutations in the APC gene of Portuguese families with familial adenomatous polyposis: correlation with phenotype.

Cancer genetics and cytogenetics - 1 Jun 1999

Fidalgo P O, Maia L C, Cravo M L, Albuquerque C M, Suspiro A, Ramalho E, Nobre-Leitão C

Abstract excerpt

Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). In the present study, we have used the protein truncation test to screen for mutations in exon 15 and exons 1-14 of the APC gene and denaturing gradient gel electrophoresis to analyze exons 1-14. We have studied nine unrelated FAP kindreds, eight with the classical phenotype and one with an...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10347554
DOI: 10.1016/s0165-4608(98)00238-6

Genes

APC
FAP

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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Seven novel mutations in the APC gene of Portuguese families with familial adenomatous polyposis: correlation with phenotype.PMID 10347554Read ↗

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