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Article

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.

Human mutation - 1 Dec 2001

Hutter P, Rey-Berthod C, Chappuis P O, Couturier A, Membrez V, Murphy A, Joris F, Schorderet D F, Delozier-Blanchet C, Soravia C

Abstract excerpt

Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of the carboxyl terminus of the APC protein. Using an in vivo assay in yeast, we have identified pathogenic germ-line mutations in 26 of 32 (81%) unrelated...

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Source

Identifiers

PMID: 11748858
DOI: 10.1002/humu.1242

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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