Gene symbol: ABCA4. Disease: Macular dystrophy.
Fundacion Jimenez Diaz, Genetics, Avda. Reyes Catolicos, 2, 28040 Madrid, Spain. jaguirre@fjd.es
Jana
J
Aguirre-Lamban
R
R
Riveiro-Alvarez
D
D
Cantalapiedra
E
E
Vallespin
A
A
Avila-Fernandez
C
C
Villaverde-Montero
M J
MJ
Trujillo-Tiebas
C
C
Ayuso
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon