Article
A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.
Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih - 1 Mar 2005
Zhang Xiao-li, Liu Ming, Meng Xiao-hong, Fu Wei-ling, Yin Zheng-qin, Zhang Xue, Huang Jun-fu
Abstract excerpt
OBJECTIVE: To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing. METHODS: We have screened the five coding exons and splice sites of RHO gene in 27 probands who had no relativity from Chinese ADRP families and 100 normal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
