Detection of C1 inhibitor mutations in patients with hereditary angioedema.

@article{Zuraw2000DetectionOC,
  title={Detection of C1 inhibitor mutations in patients with hereditary angioedema.},
  author={Bruce Zuraw and Jack H. Herschbach},
  journal={The Journal of allergy and clinical immunology},
  year={2000},
  volume={105 3},
  pages={541-6}
}
BACKGROUND Hereditary angioedema (HAE) results from a deficiency in the functional level of C1 inhibitor caused by mutations in the C1 inhibitor gene. The mutations responsible for HAE have been shown to be heterogeneous. OBJECTIVE Because the identification of C1 inhibitor mutations may depend, in part, on the technique used to screen for mutations, we… CONTINUE READING