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Article

A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.

International ophthalmology - 1 Jun 2013

Song Yanping, Mo Guoyan, Yin Guohua

Abstract excerpt

Bietti crystalline corneoretinal dystrophy (BCD, MIM 210370) is a type of hereditary retinal disorder which commonly occurs in China. It is known that mutations in the CYP4V2 gene result in BCD. The purpose of this study was to investigate the case of a Chinese family and characterize the polymorphisms of the CYP4V2 gene. A 29-year-old male (the son of a Chinese family) with typical clinical symptoms of BCD and...

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PMID: 23242590
DOI: 10.1007/s10792-012-9686-2

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A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.PMID 23242590Read ↗

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