A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.
Kalyanasundaram
T S
TS
Black
G C
GC
O'Sullivan
J
J
Bishop
P N
PN
D000328:Adult; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / Q000235:genetics*
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins