Gene symbol: ABCA4.  Disease: Macular dystrophy.
Aguirre-Lamban
Jana
J
Fundacion Jimenez Diaz, Department of Genetics, Avda. Reyes Catolicos, 2, 28040, Madrid, Spain. jaguirre@fjd.es
Riveiro-Alvarez
R
R
Cantalapiedra
D
D
Vallespin
E
E
Avila-Fernandez
A
A
Trujillo-Tiebas
M J
MJ
Villaverde-Montero
C
C
Ayuso
C
C
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense