title: Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).
authors.affiliation: Genetics, Fundación Jimenez Diaz, Avenida Reyes Católios, 2, 28040, Madrid, Spain. evallespin@gmail.com
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespin
authors.forename: A
authors.initials: A
authors.lastname: Avila-Fernandez
authors.forename: B
authors.initials: B
authors.lastname: Almoguera
authors.forename: D
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: M
authors.initials: M
authors.lastname: Garcia-Hoyos
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: Bustamante-Aragones
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D005136:Eye Proteins; C522405:LCA5 protein, human; D008869:Microtubule-Associated Proteins