title: Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.
authors.affiliation: Fundacion Jimenez Diaz, Genetics, Avd. Reyes Catolicos, 2, 28040, Madrid, Spain. evallespin@fjd.es
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespin
authors.forename: D
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: R
authors.initials: R
authors.lastname: Riveiro-Alvarez
authors.forename: J
authors.initials: J
authors.lastname: Aguirre-Lamban
authors.forename: A
authors.initials: A
authors.lastname: Avila-Fernandez
authors.forename: M A
authors.initials: MA
authors.lastname: Martinez
authors.forename: A
authors.initials: A
authors.lastname: Gimenez
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: 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*
chemical_list: C448939:CRB1 protein, human; D003062:Codon; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins