Article
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.
Molecular vision - 1 Jan 2011
Du Wei, Bu Juan, Dong Jiamei, Jia Yanlei, Li Jing, Liang Chen, Si Shancheng, Wang Lejin
Abstract excerpt
PURPOSE: To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN). METHODS: It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were determined by...
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