title: Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Av. Reyes Católicos No. 2, 28040 Madrid, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: M
authors.initials: M
authors.lastname: Martinez-Gimeno
authors.forename: A
authors.initials: A
authors.lastname: Giménez
authors.forename: I
authors.initials: I
authors.lastname: Lorda
authors.forename: J
authors.initials: J
authors.lastname: Bueno
authors.forename: B
authors.initials: B
authors.lastname: García-Sandoval
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: M
authors.initials: M
authors.lastname: Carballo
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*; D008562:Membrane Glycoproteins; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics; D014364:Tryptophan / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D014443:Tyrosine; D006639:Histidine; D014364:Tryptophan; D001120:Arginine; D003545:Cysteine