title: First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
abstract: A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid. gentical@uni.fjd.es
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: R
authors.initials: R
authors.lastname: Sanz
authors.forename: M
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: I
authors.initials: I
authors.lastname: Lorda
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: A
authors.initials: A
authors.lastname: Ibañez
authors.forename: B
authors.initials: B
authors.lastname: García-Sandoval
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D015794:Choroideremia / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D013030:Spain
chemical_list: D018389:Codon, Nonsense