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Article

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

BMC medicine - 24 Apr 2008

Kanter-Smoler Gunilla, Fritzell Kaisa, Rohlin Anna, Engwall Yvonne, Hallberg Birgitta, Bergman Annika, Meuller Johan, Grönberg Henrik, Karlsson Per, Björk Jan, Nordling Margareta

Abstract excerpt

BACKGROUND: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients. METHODS: Mutation screening of APC and the clinical characterization of 96 unrelated FAP patients from...

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Share to Adenomatous Polyposis Coli
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18433509
DOI: 10.1186/1741-7015-6-10
PMCID: PMC2386495

Genes

APC
FAP
MUTYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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