title: [Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer].
abstract: Mutations were studied in phenylalanine hydroxylase gene of phenylketonuria patients from Kemerovo oblast and Altaiskii krai (15 and 2 families, respectively). The following mutations were identified in exons of this gene: R408W, R261Q, R243Q, Y414C, Y386C, P281L, Y168H, R68S (lead to amino acid substitutions), R243X (leads to stop codon formation), and three splice site mutations (IVS12nt 1g-->a, IVS2nt-13t-->g, IVS7nt 1g-->a).
authors.affiliation: Novosibirsk Institute of Bioorganic Chemistry, Novosibirsk, 630090 Russia.
authors.forename: F O
authors.initials: FO
authors.lastname: Smagulova
authors.forename: E V
authors.initials: EV
authors.lastname: Brenner
authors.forename: L Iu
authors.initials: LIu
authors.lastname: Kotova
authors.forename: O L
authors.initials: OL
authors.lastname: Koren'
authors.forename: V M
authors.initials: VM
authors.lastname: Nagaĭtsev
authors.forename: S G
authors.initials: SG
authors.lastname: Zhabin
authors.forename: I V
authors.initials: IV
authors.lastname: Morozov
mesh_terms: D001331:Automation; D001483:Base Sequence; D018388:Codon, Terminator; D017931:DNA Primers; D005091:Exons; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000295:instrumentation*
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D010651:Phenylalanine Hydroxylase