Article
FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.
Investigative ophthalmology & visual science - 11 May 2020
Jiang Lei, Li Yulei, Yang Kangjuan, Wang Yuping, Wang Jiuxiang, Cui Xiaoniu, Mao Jinglin, Gao Yong, Yi Ping, Wang Lejin, Liu Jing Yu
Abstract excerpt
Purpose: To identify the pathogenic gene of infantile nystagmus syndrome (INS) in three Chinese families and explore the potential pathogenic mechanism of FERM domain-containing 7 (FRMD7) mutations. Methods: Genetic testing was performed via Sanger sequencing. Western blotting was used to analyze protein expression of FRMD7. Glutathione S-transferase pull-down and immunoprecipitation were conducted to investigate...
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