Article
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
Human mutation - 1 Dec 2003
Kalmár Lajos, Bors András, Farkas Henriette, Vas Szilvia, Fandl Barbara, Varga Lilian, Füst György, Tordai Attila
Abstract excerpt
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 antigen level). The aim of the present study was to determine the disease-causing mutations in the C1INH gene...
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