Article
Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype.
Ophthalmic genetics - 1 Jun 2001
Zhang Q, Li S, Guo X, Guo L, Xiao X, Jia X, Kuang Z
Abstract excerpt
PURPOSE: To screen for possible disease-causing mutations in the CRX gene in Chinese patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its mutational phenotype. METHODS: Genomic DNA was collected from 27 patients with LCA. The coding sequences of the CRX gene were analyzed using the PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. RESULTS: We identified two...
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