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Article

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening.

Human mutation - 1 May 2012

Palmirotta Raffaele, De Marchis Maria Laura, Ludovici Giorgia, Leone Barbara, Valente Maria Giovanna, Alessandroni Jhessica, Spila Antonella, Della-Morte David, Guadagni Fiorella

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal-dominant condition mainly due to a mutation of the adenomatous polyposis coli (APC) gene. The present study reports evidence of a technical issue occurring during the mutational analysis of APC exon 4. Genetic conventional direct sequence analysis of a repetitive AT-rich region in the splice acceptor site of APC intron 3 could be misinterpreted as a...

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Source

Identifiers

PMID: 22447671
DOI: 10.1002/humu.22043

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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