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Am J Hematol. 1991 Jan;36(1):25-9.

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

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  • 1Laboratoire d'Hématologie, Centre Hospitalier Régional D'Amiens, France.

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.

PMID:
1984678
[PubMed - indexed for MEDLINE]

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