title: Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.
abstract: We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean countries, such as Italy. This is the first report of a mutation analysis in the Spanish PKU population.
authors.affiliation: Centro de Biología Molecular, Universidad Autónoma de Madrid, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Pérez
authors.forename: L R
authors.initials: LR
authors.lastname: Desviat
authors.forename: M
authors.initials: M
authors.lastname: Die
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology; D044465:White People / Q000235:genetics
chemical_list: D010651:Phenylalanine Hydroxylase