Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.
Jacobson
S G
SG
Cideciyan
A V
AV
Maguire
A M
AM
Bennett
J
J
Sheffield
V C
VC
Stone
E M
EM
D000328:Adult; D000368:Aged; D005136:Eye Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D064531:Peripherins; D010786:Photoreceptor Cells / Q000503:physiopathology*; D017354:Point Mutation; D012162:Retinal Degeneration / Q000235:genetics*
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins