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Article

Nine novel APC mutations in Italian FAP patients.

Human mutation - 1 May 2001

Resta N, Stella A, Susca F, Montera M, Gentile M, Cariola F, Prete F, Tenconi R, Tibiletti M G, Logrieco G, Mattina T, Andriulli G, Caruso M L, Fiorente P, Russo S, Caputi-Jambrenghi O, Mareni C, Guanti G

Abstract excerpt

Familial adenomatous polyposis (FAP) is a common hereditary syndrome characterized by early development of colorectal cancer consequent to extensive adenomatous polyps of the colon. In addition to the colonic manifestations the syndrome presents several extracolonic features including polyps of the upper gastrointestinal tract, congenital hypertrophy of the retinal pigment, jaw cysts, osteomata and desmoid...

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Source

Identifiers

PMID: 11317365
DOI: 10.1002/humu.1125

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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Nine novel APC mutations in Italian FAP patients.PMID 11317365Read ↗

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