Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
Nakazawa
M
M
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Kikawa
E
E
Chida
Y
Y
Tamai
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005796:Genes; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009410:Nerve Degeneration; D009419:Nerve Tissue Proteins; D064531:Peripherins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology; D017948:Retinal Rod Photoreceptor Cells / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000145:classification / Q000235:genetics*
D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins