title: [The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].
authors.forename: A V
authors.initials: AV
authors.lastname: Pivnik
authors.forename: Ia S
authors.initials: IaS
authors.lastname: Pustovoĭt
authors.forename: I V
authors.initials: IV
authors.lastname: Karpova
authors.forename: V L
authors.initials: VL
authors.lastname: Surin
authors.forename: A V
authors.initials: AV
authors.lastname: Luk'ianenko
mesh_terms: D000328:Adult; D001483:Base Sequence; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D012426:Russia
chemical_list: D012333:RNA, Messenger; D011163:Hydroxymethylbilane Synthase