Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I; Hanein S; Zanlonghi X; Serre V; Nicouleau M; Defoort-Delhemmes S; Delphin N; Fares-Taie L; Gerber S; Xerri O; Edelson C; Goldenberg A; Duncombe A; Le Meur G; Hamel C; Silva E; Nitschke P; Calvas P; Munnich A; Roche O; Dollfus H; Kaplan J; Rozet JM; Nature Genetics, 2012, vol. 44, issue 9, p 975, ISSN 15461718. ISBN 15461718.

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