Article
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.
Molecular vision - 1 Jan 2014
Li Jie, Jia Xiaoyun, Li Shiqiang, Fang Shaohua, Guo Xiangming
Abstract excerpt
PURPOSE: To identify the spectrum and frequency of five candidate genes in Chinese patients with congenital ectopia lentis (EL). METHODS: Forty consecutive and unrelated congenital probands with EL were collected and underwent ocular, skeletal, and cardiovascular examinations. Sanger sequencing was used to analyze all of the coding and adjacent regions of five candidate genes: FBN1, ADAMTS10, ADAMTSL4, TGFBR2,...
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