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TITLE: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy  Full Text
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; Helene Dollfus; Josseline Kaplan; Jean Michel Rozet; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 64