title: [Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
abstract: Upon amplification in vitro of the 12th exon area of the human phenylalanine hydroxylase gene followed by allele-specific hybridisation of the amplification product with synthetic probes and its sequencing by the Maxam-Gilbert method, a C----T transition causing phenylketonuria has been identified in Latvian patients.
authors.forename: B V
authors.initials: BV
authors.lastname: Skriabin
authors.forename: L A
authors.initials: LA
authors.lastname: Koval'chuk
authors.forename: S E
authors.initials: SE
authors.lastname: Khal'chitskiĭ
authors.forename: A A
authors.initials: AA
authors.lastname: Gol'tsov
authors.forename: O K
authors.initials: OK
authors.lastname: Kaboev
authors.forename: O V
authors.initials: OV
authors.lastname: Plutalov
authors.forename: Iu A
authors.initials: IuA
authors.lastname: Berlin
authors.forename: E I
authors.initials: EI
authors.lastname: Shvarts
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*
chemical_list: D004247:DNA; D010651:Phenylalanine Hydroxylase
vernacular_title: Opredelenie prirody mutatsionnogo povrezhdeniia v 12-om ékzone fenilalaningidroksilaznogo gena u bol'nykh fenilketonurieĭ.