Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Aguirre-Lamban
Jana
J
Genetics, Fundacion Jimenez Diaz, Reyes Catolicos, Madrid, Spain. jaguirre@fjd.es
Riveiro-Alvarez
R
R
Cantalapiedra
D
D
Avila-Fernandez
A
A
Vallespin
E
E
Villaverde-Montero
C
C
Gomez-Dominguez
B
B
Auz-Alexandre
C L
CL
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D018389:Codon, Nonsense; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D018389:Codon, Nonsense; D009711:Nucleotides