title: Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
authors.forename: T J
authors.initials: TJ
authors.lastname: Keen
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: R
authors.initials: R
authors.lastname: Kim
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
authors.forename: S
authors.initials: S
authors.lastname: Bhattacharya
mesh_terms: 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*
chemical_list: D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins