title: Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.
authors.affiliation: Unidad de Genética Médica, Hospital Universitario, Sevilla, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: B
authors.initials: B
authors.lastname: Sánchez
authors.forename: A
authors.initials: A
authors.lastname: Ruiz
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D003062:Codon; D012243:Rhodopsin