title: De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.
abstract: A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.
authors.affiliation: Research Institute for Experimental Medicine, St. Petersburgh, Russia.
authors.forename: A L
authors.initials: AL
authors.lastname: Schwarzman
authors.forename: A
authors.initials: A
authors.lastname: Kowalska
authors.forename: J
authors.initials: J
authors.lastname: Rujner
authors.forename: M S
authors.initials: MS
authors.lastname: Vlasov
authors.forename: V S
authors.initials: VS
authors.lastname: Gaitskhoki
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics*; D008103:Liver Cirrhosis / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D009838:Oligodeoxyribonucleotides; D000515:alpha 1-Antitrypsin