title: Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
abstract: In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the characterization of the PAH genotypes of 115 patients with PKU from the southeast region of Brazil. The results obtained confirm the high heterogeneity of the PAH gene and provide information about the distribution of PKU mutations in the Brazilian population.
authors.affiliation: Faculty of Medicine of Ribeirão Preto and Fundação Hemocentro de Ribeirão Preto.
authors.forename: A X
authors.initials: AX
authors.lastname: Acosta
authors.forename: W A
authors.initials: WA
authors.lastname: Silva
authors.forename: T M
authors.initials: TM
authors.lastname: Carvalho
authors.forename: M A
authors.initials: MA
authors.lastname: Zago
mesh_terms: D001938:Brazil / Q000453:epidemiology; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D010651:Phenylalanine Hydroxylase