A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
Nichols
B E
BE
Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242.
Drack
A V
AV
Vandenburgh
K
K
Kimura
A E
AE
Sheffield
V C
VC
Stone
E M
EM
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005584:Fovea Centralis; D006801:Humans; D007381:Intermediate Filament Proteins; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D017384:Sequence Deletion
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA