A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

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 sa...

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Detalles Bibliográficos
Autores principales: Du, Wei, Bu, Juan, Dong, Jiamei, Jia, Yanlei, Li, Jing, Liang, Chen, Si, Shancheng, Wang, Lejin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209434/
https://www.ncbi.nlm.nih.gov/pubmed/22065930

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209434/
https://www.ncbi.nlm.nih.gov/pubmed/22065930

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