Lebersche kongenitale Amaurose 9 ist eine autosomal rezessive Erkrankung, die auf Mutationen des NMNAT1-Gens beruht.
1. |
Keen TJ et al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. |
2. |
Zhai RG et al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity. |
3. |
Falk MJ et al. (2012) NMNAT1 mutations cause Leber congenital amaurosis. |
4. |
Perrault I et al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. |
5. |
Koenekoop RK et al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. |
6. |
OMIM.ORG article Omim 608553 |