Article
Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.
Molecular vision - 30 Aug 2007
Yuan Huiping, Kang Yang, Shao Zhenqbo, Li Yuanyuan, Yang Guoyu, Xu Na
Abstract excerpt
PURPOSE: The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the eye's iris. Aniridia may be broadly divided into hereditary and sporadic forms. The function of the PAX6 gene in these two forms of aniridia is still poorly defined. Therefore, we carried out a mutation analysis...
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