title: Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: E M
authors.initials: EM
authors.lastname: Sharp
authors.forename: D
authors.initials: D
authors.lastname: Sheils
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D001483:Base Sequence; D002896:Chromosomes, Human, Pair 6; D004277:DNA, Single-Stranded; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D004277:DNA, Single-Stranded; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins