title: Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
authors: Fundacion Jimenez Diaz, Genetics, Avda. Reyes Catolicos, 2, 28040, Madrid, Spain. jaguirre@fjd.es
authors: Jana
authors: J
authors: Aguirre
authors: R
authors: R
authors: Riveiro-Alvarez
authors: D
authors: D
authors: Cantalapiedra
authors: E
authors: E
authors: Vallespin
authors: A
authors: A
authors: Avila-Fernandez
authors: C
authors: C
authors: Villaverde-Montero
authors: M A
authors: MA
authors: Lopez-Martinez
authors: M J
authors: MJ
authors: Trujillo-Tiebas
authors: C
authors: C
authors: Ayuso
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D004247:DNA