Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.
Keen
T J
TJ
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
Inglehearn
C F
CF
Kim
R
R
Bird
A C
AC
Bhattacharya
S
S
D000328:Adult; D001483:Base Sequence; D003062:Codon; D005796:Genes; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009419:Nerve Tissue Proteins; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / 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