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Article

Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.

Human genetics - 1 Nov 1994

Wallis Y L, Macdonald F, Hultén M, Morton J E, McKeown C M, Neoptolemos J P, Keighley M, Morton D G

Abstract excerpt

Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE),...

Topics

Adenomatous Polyposis Coli
Codon, Terminator
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Exons
Genes, APC
Genotype
Humans
Hypertrophy
Mutation
Phenotype
Pigment Epithelium of Eye

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7959691
DOI: 10.1007/BF00211023

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7959691-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.PMID 7959691Read ↗

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.Semantic proximity Read ↗

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.Semantic proximity Read ↗

The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations.Semantic proximity Read ↗

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.Semantic proximity Read ↗

Fundus lesions of adenomatous polyposis.Semantic proximity Read ↗

[Congenital hypertrophy of retinal pigment epithelium: a marker in familial adenomatous polyposis].Semantic proximity Read ↗

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.Semantic proximity Read ↗

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis.Semantic proximity Read ↗

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis.Semantic proximity Read ↗

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.Semantic proximity Read ↗

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.Semantic proximity Read ↗

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

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