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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&gt;C in the <jats:italic>NYX<\/jats:italic> gene by direct sequencing. These two mutations would expand the mutation spectrum of <jats:italic>NYX.<\/jats:italic> Our study would be helpful for further studying molecular pathogenesis of CSNB.<\/jats:p>","DOI":"10.1038\/srep12679","type":"journal-article","created":{"date-parts":[[2015,8,3]],"date-time":"2015-08-03T10:20:43Z","timestamp":1438597243000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness"],"prefix":"10.1038","volume":"5","author":[{"given":"Shuzhen","family":"Dai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruifang","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningdong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,8,3]]},"reference":[{"key":"BFsrep12679_CR1","first-page":"448","volume":"72","author":"RE Carr","year":"1974","unstructured":"Carr, R. 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