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Article

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

Human genetics - 1 Dec 1995

van der Luijt R B, Vasen H F, Tops C M, Breukel C, Fodde R, Meera Khan P

Abstract excerpt

Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gene. In a large FAP family, we identified a frameshift mutation located in the alternatively spliced region of exon 9....

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Source

Identifiers

PMID: 8522331
DOI: 10.1007/BF00210303

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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APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.PMID 8522331Read ↗

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APC mutation associated with late onset of familial adenomatous polyposis.Semantic proximity Read ↗

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