• A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency 

      Vatsiou S., Zamanakou M., Loules G., Psarros F., Parsopoulou F., Csuka D., Valerieva A., Staevska M., Porebski G., Obtulowicz K., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2020)
      Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ...