Article
Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis.
American journal of medical genetics - 24 Apr 2000
Yamada H, Hoshi N, Kato E H, Ebina Y, Kishida T, Sagawa T, Matsuno K, Fujimoto S
Abstract excerpt
A 35-year-old Japanese woman with a low level (42-54%) of blood antithrombin (AT) III, experienced two induced abortions due to deep venous thrombosis at 8 weeks of gestation (GW) and cerebral thrombosis at 10 GW. The present pregnancy was successfully managed with intravenous administration of AT III (6,000-8,000 U/wk). Analysis of polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP)...
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