title: [Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene].
authors.forename: María José
authors.initials: MJ
authors.lastname: Trujillo Tiebas
authors.forename: Ascensión
authors.initials: A
authors.lastname: Giménez Pardo
authors.forename: Blanca
authors.initials: B
authors.lastname: García Sandoval
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso García
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D004596:Electroretinography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins