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Article

Different expressivity of two adjacent mutations of the APC gene.

Tumori - 1 Jan 2000

Presciuttini S, Gismondi V, Scarcello E, Sala P, D'Elia F, Rossetti C, Caroti-Ghelli C, Molina F, Groden J, Mosca F, Bertario L, Varesco L

Abstract excerpt

AIMS AND BACKGROUND: The phenotypic expression of different APC mutations in familial adenomatous polyposis (FAP) is variable: two to three variants of the disease have been defined based on the severity of colonic manifestations. Age of onset and number of polypectomies per person-year of post-surgical follow-up were compared in two FAP families with very close mutation sites in the APC gene, in order to...

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Source

Identifiers

PMID: 10228493
DOI: 10.1177/030089169908500106

Genes

APC
FAP

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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