title: Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespin
authors.forename: A
authors.initials: A
authors.lastname: Avila-Fernandez
authors.forename: C
authors.initials: C
authors.lastname: Velez-Monsalve
authors.forename: B
authors.initials: B
authors.lastname: Almoguera
authors.forename: M
authors.initials: M
authors.lastname: Martinez-Garcia
authors.forename: B
authors.initials: B
authors.lastname: Gomez-Dominguez
authors.forename: C
authors.initials: C
authors.lastname: Gonzalez-Roubaud
authors.forename: D
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: 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*
chemical_list: C448939:CRB1 protein, human; D003062:Codon; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins