Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
Ghazawy
S
S
Springell
K
K
Gauba
V
V
McKibbin
M A
MA
Inglehearn
C F
CF
D000328:Adult; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*
D005136:Eye Proteins; C454222:PRPF31 protein, human