Article
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene.
Molecular medicine reports - 1 Sept 2018
Xiu Yanghui, Yao Yihua, Yang Tanchu, Pan Meihua, Yang Hui, Fang Weifang, Gu Feng, Zhao Junzhao, Zhu Yihua
Abstract excerpt
Exploring the genetic basis for idiopathic congenital nystagmus is critical for improving our understanding of its molecular pathogenesis. In the present study, direct sequencing using gene specific primers was performed in order to identify the causative mutations in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. A comprehensive ophthalmological examination,...
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