title: Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Mir
authors.forename: E
authors.initials: E
authors.lastname: Paloma
authors.forename: R
authors.initials: R
authors.lastname: Allikmets
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: T
authors.initials: T
authors.lastname: del Rio
authors.forename: M
authors.initials: M
authors.lastname: Dean
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
authors.forename: S
authors.initials: S
authors.lastname: Balcells
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters