title: Detection of two novel mutations (nt2762, exon 2, CAG to TAG, and nt2483 or 2484, exon 2, +A) in individuals with congenital type I antithrombin deficiencies.
abstract: Genetic analyses were performed on two Japanese kindreds with congenital type I antithrombin deficiency causing recurrent thrombosis. The seven exons and flanking intron regions of the antithrombin gene were amplified by polymerase chain reaction followed by direct nucleotide sequencing. In case 1, one novel nonsense mutation, CAG to TAG at codon 100, nucleotide 2762, in exon 2, was detected. In case 2, one novel minor insertion, AT to AAT at codon 7, nucleotide 2483 or 2484, in exon 2, was detected, leading to a frameshift which resulted in a stop codon TGA at codon 32.
authors.affiliation: Second Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahara
authors.forename: H
authors.initials: H
authors.lastname: Tsuji
authors.forename: K
authors.initials: K
authors.lastname: Nakagawa
authors.forename: H
authors.initials: H
authors.lastname: Masuda
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
authors.forename: H
authors.initials: H
authors.lastname: Nishimura
authors.forename: T
authors.initials: T
authors.lastname: Kasahara
authors.forename: T
authors.initials: T
authors.lastname: Sugano
authors.forename: S
authors.initials: S
authors.lastname: Sawada
authors.forename: T
authors.initials: T
authors.lastname: Sakata
authors.forename: T
authors.initials: T
authors.lastname: Miyata
authors.forename: N
authors.initials: N
authors.lastname: Inoue
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
mesh_terms: D000293:Adolescent; D000328:Adult; D005091:Exons; D005337:Fibrin / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005337:Fibrin