A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis

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

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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
Date Type:	Publication
Status:	Published
Schools:	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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