title: Polymorphic variations in peripherin-RDS gene in the Spanish population.
abstract: The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals. We found 3 variants in first exon and nine variants in the third exon in an SSCP analysis, all corresponding to different previously described polymorphisms.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: B G
authors.initials: BG
authors.lastname: Sandoval
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: J
authors.initials: J
authors.lastname: Benitez
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D005787:Gene Frequency; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007494:Ireland; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D064531:Peripherins; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins