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Article

Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

Journal of medical genetics - 1 Apr 1996

Dobbie Z, Spycher M, Mary J L, Häner M, Guldenschuh I, Hürliman R, Amman R, Roth J, Müller H, Scott R J

Abstract excerpt

The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations. Typical disease symptoms were observed in families who harboured mutations between...

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Source

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Identifiers

PMID: 8730280
DOI: 10.1136/jmg.33.4.274
PMCID: PMC1050574

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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Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.PMID 8730280Read ↗

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The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.Semantic proximity Read ↗

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