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Article

Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.

American journal of hematology - 1 Jan 1991

Roussel B, Dieval J, Delobel J, Fernandez-Rachubinski F, Eng B, Rachubinski R A, Blajchman M A

Abstract excerpt

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.

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PMID: 1984678
DOI: 10.1002/ajh.2830360106

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