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Article

Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.

Human genetics - 1 Jul 2002

Su Li-Kuo, Kohlmann Wendy, Ward Patricia A, Lynch Patrick M

Abstract excerpt

Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen reading frame is encoded by a single exon, exon 15. Most identified APC mutations are at the 5'...

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Source

Identifiers

PMID: 12136240
DOI: 10.1007/s00439-002-0758-7

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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