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    • NMNAT1 Mutations Cause Leber Congenital Amaurosis 

      Falk, Marni J; Nakamaru-Ogiso, Eiko; Kannabiran, Chitra; Chakarova, Christina; Audo, Isabelle; Mackay, Donna S; Zeitz, Christina; Borman, Arundhati Dev; Shukla, Rachna; Palavalli, Lakshmi; Mohand-Said, Saddek; Waseem, Naushin H; Jalali, Subhadra; Perin, Juan C; Ostrovsky, Julian; Xiao, Rui; Bhattacharya, Shomi S; Webster, Andrew R; Sahel, José-Alain; Moore, Anthony T; Gai, Xiaowu; Zhang, Qi; Kelly, Zoe; Staniszewska, Magdalena; Place, Emily Margaret; Consugar, Mark Bryant; Berson, Eliot Lawrence; Liu, Qin; Pierce, Eric Adam (Nature Publishing Group, 2012)
      Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease genes (RetNet Retinal ...