A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
E
E
Kikawa
M
M
Nakazawa
Y
Y
Chida
T
T
Shiono
M
M
Tamai
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008266:Macula Lutea; D008562:Membrane Glycoproteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D064531:Peripherins; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012164:Retinal Diseases / Q000150:complications / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA