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.
Martin
Ludovic
L
Raison-Peyron
Nadia
N
Nöthen
Markus M
MM
Cichon
Sven
S
Drouet
Christian
C
D000799:Angioedema / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D005174:Factor XII / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree