title: 160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.
abstract: Mutations in the rhodopsin gene were studied in 23 unrelated Spanish patients with sporadic retinitis pigmentosa (RP). A codon 160 Thr C-->A transition was found in 4 of the 23 patients vs. none of the 159 controls (p < 0.001) suggesting that this mutation may be an informative marker in RP.
authors.affiliation: Department of Ophthalmology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Capeans
authors.forename: M J
authors.initials: MJ
authors.lastname: Blanco
authors.forename: M V
authors.initials: MV
authors.lastname: Lareu
authors.forename: A
authors.initials: A
authors.lastname: Salas
authors.forename: A
authors.initials: A
authors.lastname: Piñeiro
authors.forename: M
authors.initials: M
authors.lastname: Sánchez-Salorio
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
mesh_terms: D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
chemical_list: D013912:Threonine; D012243:Rhodopsin