Forms and Documents
- Confirmation of a clinical diagnosis
- Selection of appropriate prophylaxis and treatment
- Identification of at-risk family members
- Prenatal diagnosis in at-risk pregnancies
- Capillary Sequencing
- 995.1 Angioneurotic edema, Giant urticaria
- Bork K. et al., Hereditary angioedema caused by missense mutations in the factor XII g ene: Clinical features, trigger factors, and therapy. J Allergy Clin Immunol. 2009 Jul;124(1):129-34.
- Cichon S. et al., Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006 Dec;79(6):1098-104.
- Dewald G. and Bork K., Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9.
- Martin L. et al., Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J Allergy Clin Immunol. 2007 Oct;120(4):975-7.