A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus

PURPOSE: To identify a potential pathogenic mutation in a four-generation Chinese family with X-linked congenital nystagmus (XLCN). METHODS: Routine clinical examination and ophthalmic evaluation were performed on normal controls, two patients and two healthy members of the family. Genomic DNA was p...

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Detalles Bibliográficos
Autores principales: Hu, Ying, Shen, Jing, Zhang, Shuihua, Yang, Tao, Huang, Shangzhi, Yuan, Huiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261083/
https://www.ncbi.nlm.nih.gov/pubmed/22262942

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261083/
https://www.ncbi.nlm.nih.gov/pubmed/22262942

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