Article
A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.
Molecular vision - 22 Jun 2010
Cai Fucheng, Zhu Jianfang, Chen Wen, Ke Tie, Wang Fang, Tu Xin, Zhang Ying, Jin Runming, Wu Xiaoyan
Abstract excerpt
PURPOSE: To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract. METHODS: All patients underwent full ophthalmic examination. For mutation analysis, a partial coding region (exons 5-14) of paired box gene 6 (PAX6) was sequenced with DNA from the proband. Single-strand conformation polymorphism analysis for exon 5 of PAX6 was performed to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.