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 reaction (PCR) method followed by direct DNA sequencing analysis, which revealed a G to T transitional mutation resulting...
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