Article
A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
Molecular vision - 1 Jan 2013
Zhou Dingan, Ji Hongyun, Wei Zhiyun, Guo Luo, Li Yanpeng, Wang Teng, Zhu Yu, Dong Xingran, Wang Yang, He Lin, Xing Qinghe, Zhang Lirong
Abstract excerpt
PURPOSE: To identify the genetic defect associated with autosomal dominant congenital cataract (ADCC) in a Chinese family, in which 11 individuals across four generations are affected with coralliform cataract. METHODS: Exome sequencing was performed in two of the ADCC-affected family members to scan for potential genetic defects. Sanger sequencing was used to verify these defects in the whole family. RESULTS: By...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.