Article
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Molecular vision - 1 Jan 2008
Ma Xu, Li Fei-Feng, Wang Shu-Zhen, Gao Chang, Zhang Meng, Zhu Si-Quan
Abstract excerpt
PURPOSE: We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware of a candidate gene in the family. METHODS: Family history data were recorded. Clinical and ophthalmologic examinations were performed on family members. All the members were genotyped with microsatellite markers at...
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