title: Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
authors: Fundación Jiménez Díaz, Department Genética, Madrid, Spain. jaguirre@fjd.es
authors: Jana
authors: J
authors: Aguirre-Lamban
authors: R
authors: R
authors: Riveiro-Alvarez
authors: D
authors: D
authors: Cantalapiedra
authors: E
authors: E
authors: Vallespin
authors: M J
authors: MJ
authors: Trujillo-Tiebas
authors: C
authors: C
authors: Villaverde
authors: C
authors: C
authors: Ayuso
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D009154:Mutation
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters