Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia

Thromb Res. 1995 May 1;78(3):251-4. doi: 10.1016/0049-3848(95)90875-g.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antithrombin III / genetics*
  • Antithrombin III Deficiency*
  • Contraceptives, Oral / adverse effects
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Netherlands
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / blood
  • Pulmonary Embolism / blood
  • Pulmonary Embolism / genetics
  • Recurrence
  • Thrombophlebitis / blood
  • Thrombophlebitis / genetics*

Substances

  • Contraceptives, Oral
  • antithrombin III Arg197STOP
  • Antithrombin III