Article
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Molecular vision - 27 Apr 2011
Yang Guoxing, Xing Baogang, Liu Guangcai, Lu Xiangqing, Jia Xingang, Lu Xiangqing, Wang Xiuli, Yu Hongyan, Fu Yanjiang, Zhao Jialiang
Abstract excerpt
PURPOSE: Congenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Patients were given physical examinations and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers and logarithm of odds...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.