Article
A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.
Molecular vision - 1 Jan 2012
Hu Ying, Shen Jing, Zhang Shuihua, Yang Tao, Huang Shangzhi, Yuan Huiping
Abstract excerpt
PURPOSE: To identify a potential pathogenic mutation in a four-generation Chinese family with X-linked congenital nystagmus (XLCN). METHODS: Routine clinical examination and ophthalmic evaluation were performed on normal controls, two patients and two healthy members of the family. Genomic DNA was prepared from the peripheral blood of members of the family and from 50 normal controls. All coding exons and the...
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