Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 9 is an autosomal recessive disorder caused by mutations of the NMNAT1 gene.
| 1. |
Keen TJ et al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. 
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| 2. |
Zhai RG et al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.
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| 3. |
Falk MJ et al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.
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| 4. |
Perrault I et al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
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| 5. |
Koenekoop RK et al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
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| 6. |
OMIM.ORG article Omim 608553
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