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Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness

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...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Dai, Shuzhen, Ying, Ming, Wang, Kai, Wang, Liming, Han, Ruifang, Hao, Peng, Li, Ningdong
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4522681/
https://ncbi.nlm.nih.gov/pubmed/26234941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep12679
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