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

    Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an autosomal recessive form of Leber congenital amaurosis characterized by early-onset severe macular atrophy and o...

    Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, Valérie Serre… in Nature Genetics (2012)