Table 1 of
Blanco-Kelly, Mol Vis 2012; 18:1478-1483. Table 1 of
Blanco-Kelly, Mol Vis 2012; 18:1478-1483.
Table 1. Mutations detected in the adRP Spanish cohort (n=139)
Gene |
Mutation |
Number of mutated families |
|---|---|---|
| RHO | ||
| p.Gly106Arg | 1 | |
| p.Arg135Leu | 1 | |
| p.Ala164Glu | 1 | |
| p.Pro171Leu | 1 | |
| p.Tyr178Cys | 1 | |
| p.Glu181Lys | 1* | |
| p.Gly182Ser | 1 | |
| p.Asp190Tyr | 1 | |
| p.Pro347Leu | 4 | |
| RP1 | ||
| p.Arg677Stop | 1 | |
| p.Lys705fsX711 | 1 | |
| p.Cys744Stop | 1 | |
| PRPF31 | ||
| p.Cys299Arg | 1 | |
| p.Thr494Met | 3 | |
| CRX | ||
| p.Arg41Gln | 1 | |
| NR2E3 | ||
| p.Gly56Arg | 1 (microarray genotyping) + | |
| 5 (direct sequencing) | ||
| Total | 20 (microarray genotyping) + 6 (direct sequencing) | |