Leber congenital amaurosis 09
Leber congenital amaurosis 9 is an autosomal recessive disorder caused by mutations of the NMNAT1 gene.
Keen TJ et. al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.[^]
Zhai RG et. al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.[^]
Falk MJ et. al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.[^]
Perrault I et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.[^]
Koenekoop RK et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.[^]