Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.

@article{Boekhorst2005ThirteenNM,
  title={Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.},
  author={Jorien Boekhorst and Bert W Verbruggen and Jean Maurice Lavergne and J. Y. Costa and Selene C M Schoormans and Paul P. T. Brons and Marian G. J. van Kraaij and Irena R O Nov{\'a}kov{\'a} and Waander L van Heerde},
  journal={British journal of haematology},
  year={2005},
  volume={131 1},
  pages={109-17}
}
The development of neutralising antibodies to factor VIII (FVIII) is a major complication of haemophilia A (HA) therapy. We aimed to construct an individual risk profile for the development of inhibitors in HA and started by screening for the causative mutation in our HA patient population. A total of 109 patients and 28 carriers were screened. The analysis… CONTINUE READING