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Article

Clinical and molecular findings in three Japanese patients with crystalline retinopathy.

Japanese journal of ophthalmology - 1 Jan 2000

Jin Zi-Bing, Ito Shigeo, Saito Yoshihiro, Inoue Yuji, Yanagi Yasuo, Nao-I Nobuhisa

Abstract excerpt

PURPOSE: To identify CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD). METHODS: The three cases were diagnosed by ophthalmological examinations. All exons and flanking introns were amplified by polymerase chain reaction (PCR). PCR products were analyzed by direct sequencing. RNA was extracted from blood samples and analyzed by reverse transcriptase...

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Share to Corneal Dystrophies, Hereditary
Share to Crystallins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 Enzyme System

Share to Cytochrome P450 Family 4

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Source

Identifiers

PMID: 17013694
DOI: 10.1007/s10384-006-0350-0

Provenance

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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