Antithrombin III-Amiens: A new family with an Arg47 → cys inherited variant of antithrombin iii with impaired heparin cofactor activity Academic Article uri icon

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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.

authors

  • Roussel, B
  • Dieval, J
  • Delobel, J
  • Fernandez-Rachubinski, F
  • Eng, B
  • Rachubinski, RA
  • Blajchman, Morris

publication date

  • January 1991