FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome

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 pr...

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Detalles Bibliográficos
Autores principales: Jiang, Lei, Li, Yulei, Yang, Kangjuan, Wang, Yuping, Wang, Jiuxiang, Cui, Xiaoniu, Mao, Jinglin, Gao, Yong, Yi, Ping, Wang, Lejin, Liu, Jing Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7405782/
https://www.ncbi.nlm.nih.gov/pubmed/32446246
http://dx.doi.org/10.1167/iovs.61.5.41

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