Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Aguirre-Lamban
Jana
J
Genetics, Fundacion Jimenez Diaz, Madrid, Spain. jaguirre@fjd.es
Riveiro-Alvarez
R
R
Garcia-Hoyos
M
M
Cantalapiedra
D
D
Martinez-Garcia
M
M
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*; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D009711:Nucleotides