Article
Congenital antithrombin III deficiency (AT-III Kyoto): identification of a point mutation altering arginine-406 to methionine behind the reactive site.
Thrombosis research - 1 Oct 1991
Nakagawa M, Tanaka S, Tsuji H, Takada O, Uno M, Hashimoto-Gotoh T, Wagatsuma M
Abstract excerpt
A Japanese patient with congenital antithrombin III (AT-III) deficiency, named AT-III Kyoto, is associated with reduced levels (60% of normal) of AT-III antigen, progressive activity and heparin cofactor activity. The antithrombin III gene of this patient was investigated by polymerase chain reac...
Topics
- Adult
- Amino Acid Sequence
- Antithrombin III
- Antithrombin III Deficiency
- Arginine
- Base Sequence
- Binding Sites
- Gene Amplification
- Humans
- Isoelectric Focusing
- Male
- Methionine