Lebersche kongenitale Amaurose 11 ist eine autosomal dominante Erkrankung, die auf Mutationen des IMPDH1-Gens beruht.
1. |
Bowne SJ et al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. |
2. |
Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. |
3. |
OMIM.ORG article Omim 613837 |