Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán
Jana
J
Fundacion Jimenez Diaz, Genetics, Avda. Reyes Católicos, 2, 28040 Madrid, Spain. jaguirre@fjd.es
Riveiro-Alvarez
R
R
Cantalapiedra
D
D
Vallespin
E
E
Avila-Fernandez
A
A
Villaverde-Montero
C
C
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
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