A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

@article{Frangi1992ADC,
  title={A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).},
  author={D Frangi and Kulwant S. Aulak and Marco Cicardi and Richard A Harrison and Alvin E. Davis},
  journal={FEBS letters},
  year={1992},
  volume={301 1},
  pages={34-6}
}
A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).