Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Lamban
Jana Aguirre
JA
Fundacion Jimenez Diaz, Genetics, Avda. Reyes Catolicos, 2, 28040, Madrid, Spain. jaguirre@fjd.es
Riveiro-Alvarez
R
R
Cantalapiedra
D
D
Vallespin
E
E
Villaverde
C
C
Avila-Fernandez
A
A
Lopez-Martinez
M A
MA
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000595:Amino Acid Sequence / Q000235:genetics; D003062:Codon / 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; D003062:Codon