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Article

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

European journal of human genetics : EJHG - 1 Apr 2017

Jiao Xiaodong, Li Anren, Jin Zi-Bing, Wang Xinjing, Iannaccone Alessandro, Traboulsi Elias I, Gorin Michael B, Simonelli Francesca, Hejtmancik J Fielding

Abstract excerpt

To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples from 58 unrelated patients with clinical diagnoses of BCD. Exons and flanking intronic regions of the CYP4V2 gene were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28051075
DOI: 10.1038/ejhg.2016.184
PMCID: PMC5386409

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