Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
17:50 EDT 29 Jul 2012 | Nature Publishing
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 optic atrophy.
Original Article: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
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