title: [Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].
abstract: The data on analysis of phenylalanine hydroxilase (PAH) gene mutations in 39 phenylketonuria (PKU) families from Ukraine are presented. Obtained results indicate that the most common mutation observed in the Ukrainian population is R408W mutation (66.6%). Besides two minor mutations R158Q (2.6%) and Y414C (1.25%) were revealed.
authors.forename: M V
authors.initials: MV
authors.lastname: Nechiporenko
authors.forename: L A
authors.initials: LA
authors.lastname: Lalivshits
mesh_terms: D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D014455:Ukraine / Q000453:epidemiology
chemical_list: D010651:Phenylalanine Hydroxylase