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Article

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

Human molecular genetics - 1 Jan 1994

Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P

Abstract excerpt

In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the APC gene. Germ-line mutations were identified in 20.8% of the index patients by a single step screening procedure based on heteroduplex analysis of a PCR product encompassing codons 1027-1384 of the APC gene. The most common mutations in our sample were a 5 bp...

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Source

Identifiers

PMID: 8162022
DOI: 10.1093/hmg/3.1.181

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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