S. Saleun et al., A NOVEL NONSENSE MUTATION IN THE ANTITHROMBIN-III GENE (CYS-4-]STOP) CAUSING RECURRENT VENOUS THROMBOSIS, Blood coagulation & fibrinolysis, 7(5), 1996, pp. 578-579
We describe a novel mutation identified in the antithrombin III (AT-II
I) propeptide responsible for AT-III deficiency. This mutation, a C to
A transversion in exon 2, converts the cysteine at position -4 into a
stop codon (TGC --> TGA). In this family with severe thrombophilia, t
he mutation co-segregates with the clinical phenotype.