Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

✍ Scribed by Perrault, Isabelle; Hanein, Sylvain; Zanlonghi, Xavier; Serre, Valérie; Nicouleau, Michael; Defoort-Delhemmes, Sabine; Delphin, Nathalie; Fares-Taie, Lucas; Gerber, Sylvie; Xerri, Olivia; Edelson, Catherine; Goldenberg, Alice; Duncombe, Alice; Le Meur, Gylène; Hamel, Christian; Silva, Eduardo; Nitschke, Patrick; Calvas, Patrick; Munnich, Arnold; Roche, Olivier; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel

• Book ID: 118048093
• Publisher: Nature Publishing Group
• Year: 2012
• Tongue: English
• Weight: 352 KB
• Volume: 44
• Category: Article
• ISSN: 1061-4036
• DOI: 10.1038/ng.2357