SERPING1 mutations in 59 families with hereditary angioedema.

@article{LpezLera2011SERPING1MI,
  title={SERPING1 mutations in 59 families with hereditary angioedema.},
  author={Alberto L{\'o}pez-Lera and Sof{\'i}a Garrido and Olga Roche and Margarita L{\'o}pez-Trascasa},
  journal={Molecular immunology},
  year={2011},
  volume={49 1-2},
  pages={
          18-27
        }
}
Hereditary angioedema due to C1 Inhibitor (C1Inh) deficiency (HAE types I and II) is a rare, life-threatening disease causing spontaneous edema of the submucosal layers. A cohort of 127 individuals with symptoms of recurrent familial angioedema from 59 non-related families was studied. All the patients included fulfilled the diagnostic and biochemical criteria of HAE, including low C1Inh function and/or concentration. Genetic studies were carried out by PCR and sequencing of the C1NH locus… CONTINUE READING

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