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Article

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

Eye (London, England) - 1 Feb 2000

Pang C P, Keung J W, Tang N L, Fan D S, Lau J W, Lam D S

Abstract excerpt

PURPOSE: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) exists almost exclusively among familial adenomatous polyposis (FAP) patients with adenomatous polyposis coli (APC) mutations between codon 413 in exon 9 and codon 1387 in exon 15. We investigated the locality of APC mutations in relationship to the occurrence of CHRPE in two Chinese families with FAP. METHODS: Genomic DNA of available...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10755094
DOI: 10.1038/eye.2000.5

Genes

FAP
APC

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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