Article
Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Ophthalmic genetics - 1 Sept 2001
Zhao K, Xiong S, Wang L, Wang L, Cui Y, Wang Q
Abstract excerpt
PURPOSE: To identify mutations in the rhodopsin (RHO) gene in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) and to measure the prevalence rate of RHO mutations in Chinese ADRP cases. METHODS: Thirteen Chinese families with ADRP were clinically characterized. The complete coding region and intron splice sites of RHO were analyzed for mutations with single-strand conformation polymorphism...
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