Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534.
Vallespin
E
E
Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain. evallespin@fjd.es
Cantalapiedra
D
D
Garcia-Hoyos
M
M
Riveiro
R
R
Villaverde
C
C
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D019943:Amino Acid Substitution; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*
C448939:CRB1 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins