Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.
Vallespin
Elena
E
Fundacion Jimenez Diaz, Genetics, Avd. Reyes Catolicos, 2, 28040, Madrid, Spain. evallespin@fjd.es
Cantalapiedra
D
D
Riveiro-Alvarez
R
R
Aguirre-Lamban
J
J
Avila-Fernandez
A
A
Martinez
M A
MA
Gimenez
A
A
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D000595:Amino Acid Sequence / Q000235:genetics; D003062:Codon / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
C448939:CRB1 protein, human; D003062:Codon; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins