Familial Thrombophilia Associated With Homozygosity for the Cystathionine b-Synthase 833 T 3 C Mutation

@inproceedings{Gaustadnes2000FamilialTA,
  title={Familial Thrombophilia Associated With Homozygosity for the Cystathionine b-Synthase 833 T 3 C Mutation},
  author={Mette Gaustadnes and Niels R{\"u}diger and Karsten Rasmussen and J\orgen Ingerslev},
  year={2000}
}
Severe hyperhomocysteinemia due to cystathionine b-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, '50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T 3C mutation. These patients, who… CONTINUE READING