Lebersche kongenitale Amaurose 03
Lebersche kongenitale Amaurose 3 ist eine autosomal rezessive Erkrankung, die auf Mutationen des SPATA7-Gens beruht.
Gliederung
Referenzen:
| 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. [^] |
Update: 25. November 2016
