Abstract
A novel GCT→GTT transition in the antithrombin III (ATIII) gene, resulting in an Ala387→Val substitution near the reactive site, was detected in a patient with recurrent venous thrombosis and ATIII activity/antigen levels consistent with type I ATIII deficiency.
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White, D., Abraham, G., Carter, C. et al. A novel missense mutation in the antithrombin III gene (Ala387→Val) causing recurrent venous thrombosis. Hum Genet 90, 472–473 (1992). https://doi.org/10.1007/BF00220482
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DOI: https://doi.org/10.1007/BF00220482