title: W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
authors.affiliation: Laboratoire de Génétique Moléculaire et CNRS UPR 1142.
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: V
authors.initials: V
authors.lastname: Delague
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: C
authors.initials: C
authors.lastname: Hamel
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D001120:Arginine / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D020125:Mutation, Missense / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D014364:Tryptophan; D001120:Arginine