Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.
Vallespin
Elena
E
Avila-Fernandez
A
A
Velez-Monsalve
C
C
Almoguera
B
B
Martinez-Garcia
M
M
Gomez-Dominguez
B
B
Gonzalez-Roubaud
C
C
Cantalapiedra
D
D
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D003062:Codon / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*
C448939:CRB1 protein, human; D003062:Codon; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins