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Article

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.

Scandinavian journal of gastroenterology - 1 Sept 1996

Marchese C A, Bertolino F, Ceccopieri B, Vanzetti M, Scaglione D, Locatelli L, Montera M, Romio L, Resta N, Stella A, Guanti G, Mareni C

Abstract excerpt

BACKGROUND: More than 100 different mutations in the adenomatous polyposis coli (APC) gene have been identified; virtually all lead to the production of a truncated protein. Clinical details of patients with missense mutations undoubtedly cosegregating with the disease have not been reported and may be relevant in understanding the APC protein function. METHODS: In one family with familial adenomatous polyposis...

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Source

Identifiers

PMID: 8888441
DOI: 10.3109/00365529609052002

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.

Related research

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Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.PMID 8888441Read ↗

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A new germline stop codon mutation in exon 15 of the APC gene predisposing to familial adenomatous polyposis.Semantic proximity Read ↗

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Two novel mutations in exons 5 and 15 of the adenomatous polyposis coli (APC) gene.Semantic proximity Read ↗

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