Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Aguirre-Lamban
Jana
J
Genetics, Fundacion Jimenez Diaz, Avda. Reyes Catolicos, 2, 28040, Madrid, Spain. jaguirre@fjd.es
Riveiro-Alvarez
R
R
Cantalapiedra
D
D
Garcia-Hoyos
M
M
Avila-Fernandez
A
A
Villaverde-Montero
C
C
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D003062:Codon / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon