Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.
Yanagihashi
Satsuki
S
Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki, Japan.
Nakazawa
Mitsuru
M
Kurotaki
Junji
J
Sato
Motoya
M
Miyagawa
Yasuhiro
Y
Ohguro
Hiroshi
H
D000368:Aged; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics*; D015862:Choroid Diseases / Q000175:diagnosis / Q000235:genetics*; D003062:Codon; D004596:Electroretinography; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007930:Leucine / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D017354:Point Mutation
D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D001120:Arginine; D007930:Leucine