title: A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.
authors.affiliation: Secció de Genética del Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Reig
authors.forename: N
authors.initials: N
authors.lastname: Llecha
authors.forename: J
authors.initials: J
authors.lastname: Antich
authors.forename: E
authors.initials: E
authors.lastname: Gean
authors.forename: I
authors.initials: I
authors.lastname: Tejada
authors.forename: M
authors.initials: M
authors.lastname: Molina
authors.forename: J
authors.initials: J
authors.lastname: Reventós
authors.forename: M
authors.initials: M
authors.lastname: Carballo
mesh_terms: D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006639:Histidine; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain; D013912:Threonine
chemical_list: D013912:Threonine; D006639:Histidine; D004247:DNA; D012243:Rhodopsin; D001120:Arginine