Article
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
Molecular vision - 18 Apr 2008
Li Ningdong, Wang Liming, Cui Lihong, Zhang Li, Dai Suzhen, Li Hongyan, Chen Xia, Zhu Lina, Hejtmancik James F, Zhao Kanxing
Abstract excerpt
PURPOSE: Infantile nystagmus (IN) is an inherited disorder characterized by bilateral ocular oscillatory movements. Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families with infantile nystagmus. METHODS: Linkage analysis was performed with fluorescently labeled microsatellite markers,...
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