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    • Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis 

      Chiang, Pei-Wen; Wang, Juan; Chen, Yang; Fu, Quan; Zhong, Jing; Chen, Yanhua; Yi, Xin; Wu, Renhua; Gan, Haixue; Shi, Yong; Chen, Yanling; Barnett, Christopher; Wheaton, Dianna; Day, Megan; Sutherland, Joanne; Heon, Elise; Weleber, Richard G.; Rassi Gabriel, Luis Alexandre; Cong, Peikuan; Chuang, KuangHsiang; Ye, Sheng; Sallum, Juliana Maria Ferraz [UNIFESP]; Qi, Ming (Nature Publishing Group, 2012-09-01)
      Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G > A, p.Trp169*) and ...