A myoferlin gain-of-function variant associates with a new type of hereditary angioedema

Allergy. 2020 Nov;75(11):2989-2992. doi: 10.1111/all.14454. Epub 2020 Jul 1.
No abstract available

Keywords: angioedema; basic mechanisms; genetics.

Publication types

  • Letter

MeSH terms

  • Angioedemas, Hereditary* / diagnosis
  • Angioedemas, Hereditary* / genetics
  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein / genetics
  • Gain of Function Mutation
  • Humans

Substances

  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein