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Antithrombin-III-Stockholm: A Codon 392 (Gly →...
Journal article

Antithrombin-III-Stockholm: A Codon 392 (Gly → Asp) Mutation With Normal Heparin Binding and Impaired Serine Protease Reactivity

Abstract

Abstract Antithrombin-III-Stockholm is a new structural variant of antithrombin- III (AT-III) with normal heparin affinity but defective serine protease inhibitory activity. The proposita, a white female born in 1966, was diagnosed to have developed a pulmonary embolus while on oral contraceptives at age 19. The proposita, as well as her father, were diagnosed to have a type 2 AT-III deficiency as they had normal levels of …

Authors

Blajchman MA; Fernandez-Rachubinski F; Sheffield WP; Austin RC; Schulman S

Journal

Blood, Vol. 79, No. 6, pp. 1428–1434

Publisher

American Society of Hematology

Publication Date

March 15, 1992

DOI

10.1182/blood.v79.6.1428.1428

ISSN

0006-4971