Article
Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.
Molecular vision - 7 Jun 2006
Wang Panfeng, Guo Xiangming, Jia Xiaoyun, Li Shiqiang, Xiao Xueshan, Zhang Qingjiong
Abstract excerpt
PURPOSE: Mutations in PAX6 are the major cause of aniridia. Only a few PAX6 mutations in Chinese have been reported. This study is to identify novel mutations in PAX6 of Chinese patients with aniridia. METHODS: Aniridia patients were collected from 11 Chinese families, and genomic DNA was prepared from venous leukocytes. The coding regions of PAX6 were analyzed by direct sequencing of PCR products. Variations...
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