Antithrombin III-Amiens: A new family with an Arg47 → cys inherited variant of antithrombin iii with impaired heparin cofactor activity
- 1 January 1991
- journal article
- case report
- Published by Wiley in American Journal of Hematology
- Vol. 36 (1) , 25-29
- https://doi.org/10.1002/ajh.2830360106
Abstract
A family with an antithrombin III variant (AT‐III‐Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg47 Cys mutation in exon 2 of the variant antithrombin III gene.Keywords
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