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