title: Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
authors.affiliation: Fundacion Jimenez Diaz, Genetics, Avda. Reyes Catolicos, 2, 28040, Madrid, Spain. jaguirre@fjd.es
authors.forename: Jana Aguirre
authors.initials: JA
authors.lastname: Lamban
authors.forename: R
authors.initials: R
authors.lastname: Riveiro-Alvarez
authors.forename: D
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: E
authors.initials: E
authors.lastname: Vallespin
authors.forename: C
authors.initials: C
authors.lastname: Villaverde
authors.forename: A
authors.initials: A
authors.lastname: Avila-Fernandez
authors.forename: M A
authors.initials: MA
authors.lastname: Lopez-Martinez
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000595:Amino Acid Sequence / Q000235:genetics; D003062:Codon / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon