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Article

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.

Human genetics - 1 Oct 1997

Walon C, Kartheuser A, Michils G, Smaers M, Lannoy N, Ngounou P, Mertens G, Verellen-Dumoulin C

Abstract excerpt

Among 23 germline mutations identified in the APC screening of 45 familial adenomatous polyposis (FAP) patients, we have found 10 different novel frameshift mutations in 11 apparently unrelated patients. In two cases, an additional missense mutation was detected. One previously described as a cau...

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Source

Identifiers

PMID: 9341879
DOI: 10.1007/s004390050560

Genes

FAP
APC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9341879-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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