title: Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region.
abstract: Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies were determined: codon 408-56.4%; codon 158-8.1%; codon 261-3.2%, and IVS-12-16%.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, Moscow.
authors.forename: E V
authors.initials: EV
authors.lastname: Charikova
authors.forename: S E
authors.initials: SE
authors.lastname: Khalchitskii
authors.forename: A G
authors.initials: AG
authors.lastname: Antoshechkin
authors.forename: E I
authors.initials: EI
authors.lastname: Schwartz
mesh_terms: D001483:Base Sequence; D002648:Child; D015331:Cohort Studies; D004247:DNA / Q000032:analysis; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012426:Russia
chemical_list: D004247:DNA; D010651:Phenylalanine Hydroxylase