title: Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
authors.affiliation: Servei de Genètica, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Bernal
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: A
authors.initials: A
authors.lastname: Gimenez
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: I
authors.initials: I
authors.lastname: Marcos
authors.forename: M
authors.initials: M
authors.lastname: Calaf
authors.forename: E
authors.initials: E
authors.lastname: Del Rio
authors.forename: M
authors.initials: M
authors.lastname: Baiget
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
chemical_list: D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human