Article
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
Scientific reports - 3 Aug 2015
Dai Shuzhen, Ying Ming, Wang Kai, Wang Liming, Han Ruifang, Hao Peng, Li Ningdong
Abstract excerpt
Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study would be helpful for...
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