Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship

@article{Rendal2001Type2V,
  title={Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship},
  author={Esther Rendal and Norma Penas and B. Larrabeiti and Almudena P{\'e}rez and A. Almeida do Vale and MFernanda L{\'o}pez-Fernandez and Javier Batlle},
  journal={Annals of Hematology},
  year={2001},
  volume={80},
  pages={354-360}
}
An analysis was conducted in four members of the same family, two of whom had a history of severe bleeding associated with type 2B von Willebrand's disease (VWD) which, although found to be due to the same mutation, nevertheless exhibited different phenotype patterns in the two subjects involved. Von Willebrand's factor (VWF) multimers were assayed with high- and low-resolution sodium dodecyl sulfate (SDS) agarose gels. The patients were studied before and after intravenous administration of… CONTINUE READING