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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Hlavní autoři: Hu, Ying, Shen, Jing, Zhang, Shuihua, Yang, Tao, Huang, Shangzhi, Yuan, Huiping
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3261083/
https://ncbi.nlm.nih.gov/pubmed/22262942
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