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Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.

Investigative ophthalmology & visual science - 1 Oct 2005

Lee Kelvin Y C, Koh Adrian H C, Aung Tin, Yong Victor H K, Yeung Kit, Ang Chong-Lye, Vithana Eranga N

Abstract excerpt

PURPOSE: Mutations of the CYP4V2 gene, a novel family member of the cytochrome P450 genes on chromosome 4q35, have recently been identified in patients with Bietti crystalline dystrophy (BCD). The aim of this study was to investigate the spectrum of mutations in this gene in BCD patients from Singapore, and to characterize their phenotype. METHODS: Nine patients with BCD from six families were recruited into the...

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PMID: 16186368
DOI: 10.1167/iovs.05-0378

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

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