Lebersche kongenitale Amaurose 06
Lebersche kongenitale Amaurose 6 ist eine autosomal rezessive Erkrankung, die auf Mutationen des RPGRIP1-Gens beruht.
Gliederung
Referenzen:
| 1. |
Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. [^] |
| 2. |
Dryja TP et al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis. [^] |
| 3. |
Gerber S et al. (2001) Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. [^] |
| 4. |
Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. [^] |
| 5. |
Pawlyk BS et al. (2005) Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. [^] |
| 6. |
OMIM.ORG article Omim 613826 [^] |
