Lebersche kongenitale Amaurose 3 ist eine autosomal rezessive Erkrankung, die auf Mutationen des SPATA7-Gens beruht.
1. |
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. |
2. |
Li Y et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population. |
3. |
Wang H et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. |
4. |
Mackay DS et al. (2011) Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. |
5. |
Stockton DW et al. (1998) A novel locus for Leber congenital amaurosis on chromosome 14q24. |
6. |
OMIM.ORG article Omim 604232 |