Mutation screening of the C1 inhibitor g
✍
Lajos Kalmár; András Bors; Henriette Farkas; Szilvia Vas; Barbara Fandl; Lilian
📂
Article
📅
2003
🏛
John Wiley and Sons
🌐
English
⚖ 67 KB
Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema caused by the deficiency of activated C1 esterase inhibitor protein (C1-INH, type I (C1NH): reduced serum antigen level, type II: reduced activity and normal serum