title: Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy.
authors.affiliation: Fundación Jiménez Díaz, Genética, Avda. Reyes Católicos, 2, 28040, Madrid, Spain. cvillaverde@fjd.es
authors.forename: Cristina
authors.initials: C
authors.lastname: Villaverde
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: J
authors.initials: J
authors.lastname: Gallego-Merlo
authors.forename: E
authors.initials: E
authors.lastname: Vallespin
authors.forename: D
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: R
authors.initials: R
authors.lastname: Riveiro-Alvarez
authors.forename: M
authors.initials: M
authors.lastname: Carballo
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins
chemical_list: D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins