White, Deborah, Abraham, Ginger, Carter, Chris, Kakkar, Vijay V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1992. A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis. Human Genetics 90 (4) , pp. 472-473. 10.1007/BF00220482 |
Official URL: http://dx.doi.org/10.1007/BF00220482
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.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Subjects: | R Medicine > R Medicine (General) |
Publisher: | Springer |
ISSN: | 0340-6717 |
Last Modified: | 27 Oct 2022 08:20 |
URI: | https://orca.cardiff.ac.uk/id/eprint/62020 |
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