title: New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.
authors.affiliation: Secció de Genètica, Hospital de Sant Joan de Déu, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Reig
authors.forename: A I
authors.initials: AI
authors.lastname: Alvarez
authors.forename: I
authors.initials: I
authors.lastname: Tejada
authors.forename: M
authors.initials: M
authors.lastname: Molina
authors.forename: E
authors.initials: E
authors.lastname: Aróstegui
authors.forename: R
authors.initials: R
authors.lastname: Martín
authors.forename: J
authors.initials: J
authors.lastname: Antich
authors.forename: M
authors.initials: M
authors.lastname: Carballo
mesh_terms: D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain
chemical_list: D012243:Rhodopsin