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Article

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

Human molecular genetics - 1 Jul 1993

Paul P, Letteboer T, Gelbert L, Groden J, White R, Coppes M J

Abstract excerpt

Germ-line mutations in the adenomatous polyposis coli (APC) gene result in familial adenomatous polyposis coli (APC), an inherited syndrome that predisposes affected individuals to early onset of colorectal cancer. Somatic APC mutations also have been detected in sporadic colon tumors. We have used single strand conformational polymorphism (SSCP) analysis to scan a region of the APC gene that frequently is...

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Identifiers

PMID: 8395941
DOI: 10.1093/hmg/2.7.925

Genes

APC

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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.

Related research

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Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.PMID 8395941Read ↗

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Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.Semantic proximity Read ↗

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