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Article

CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.

Ophthalmic research - 1 Jan 2000

Gekka Tamaki, Hayashi Takaaki, Takeuchi Tomokazu, Goto-Omoto Satoshi, Kitahara Kenji

Abstract excerpt

Bietti's crystalline dystrophy (BCD) is an autosomal-recessive retinal dystrophy characterized by numerous glistening intraretinal dots scattered over the fundus, particularly in the posterior pole. The purpose of this study was to report mutations in the CYP4V2 gene (encoding a ubiquitously-expressed 525-amino acid sequence belonging to the CYP450 family) and to investigate the impact of the mutation on pre-mRNA...

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Identifiers

PMID: 16088246
DOI: 10.1159/000087214

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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