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Article

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

European journal of human genetics : EJHG - 1 Jan 2004

Aretz Stefan, Uhlhaas Siegfried, Caspari Reiner, Mangold Elisabeth, Pagenstecher Constanze, Propping Peter, Friedl Waltraut

Abstract excerpt

A predominance of de novo mutations in the paternal germ line has been reported for several disorders; however, in familial adenomatous polyposis (FAP), the parental origin of APC mutations has been scarcely analysed so far. Among 563 unrelated FAP families with known family history, we identified 58 patients with a suspected de novo mutation in the APC gene. A germline mutation was detected in 52 of them; in 38...

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Share to Adenomatous Polyposis Coli
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14523376
DOI: 10.1038/sj.ejhg.5201088

Genes

APC
FAP

Variants

Provenance

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