Article
Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.
International journal of hematology - 1 Jul 2003
Nagaizumi Keiko, Inaba Hiroshi, Amano Kagehiro, Suzuki Midori, Arai Morio, Fukutake Katsuyuki
Abstract excerpt
We analyzed the antithrombin (AT) gene in 9 unrelated Japanese patients with thrombotic disease. All 7 exons, the splice junctions, and the 5'-flanking region of the AT gene were amplified by polymerase chain reaction and sequenced directly. Nine different point mutations, all in the heterozygous state, were identified. Five novel (M-32T, M89K, L146H, Q159X, and L409P) and 2 previously reported (R132X and R359X)...
Topics
- Adolescent
- Adult
- Antithrombin III
- Antithrombin III Deficiency
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Japan
- Male
- Middle Aged
- Mutation, Missense
- Pedigree
- Phenotype
- Point Mutation
- Protein Conformation
- Venous Thrombosis