De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema

J Allergy Clin Immunol. 2013 Sep;132(3):748-750.e3. doi: 10.1016/j.jaci.2013.04.006. Epub 2013 May 17.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angioedemas, Hereditary / genetics*
  • Complement C1 Inactivator Proteins / genetics*
  • Complement C1 Inhibitor Protein
  • Female
  • Humans
  • Mutation
  • Polymorphism, Single Nucleotide
  • Young Adult

Substances

  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human