Article
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Molecular vision - 9 Feb 2011
Hu Shanshan, Guo Junjing, Wang Binbin, Wang Jing, Zhou Zhou, Zhou Guangkai, Ding Xuchen, Ma Xu, Qi Yanhua
Abstract excerpt
PURPOSE: The purpose of this study was to identify the mutation(s) or deletion(s) of the forkhead box protein L2 (FOXL2) gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Genomic DNA extracted from peripheral blood was collected from two Chinese families and from one sporadic case. PCR direct sequencing and quantitative real-time PCR-based copy number screening...
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