Article
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
Molecular vision - 1 Jan 2014
Yang Liping, Wu Lemeng, Yin Xiaobei, Chen Ningning, Li Genlin, Ma Zhizhong
Abstract excerpt
PURPOSE: To identify disease-causing mutations in Chinese families who presented with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). METHODS: The pathogenic variant in a Chinese family with autosomal dominant RP was investigated with a specific hereditary eye disease enrichment panel (HEDEP) based on targeted exome capture technology. The identified variant was confirmed with Sanger sequencing....
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