Article
Detection of C1 inhibitor mutations in patients with hereditary angioedema.
The Journal of allergy and clinical immunology - 1 Mar 2000
Zuraw B L, Herschbach J
Abstract excerpt
BACKGROUND: Hereditary angioedema (HAE) results from a deficiency in the functional level of C1 inhibitor caused by mutations in the C1 inhibitor gene. The mutations responsible for HAE have been shown to be heterogeneous. OBJECTIVE: Because the identification of C1 inhibitor mutations may depend, in part, on the technique used to screen for mutations, we screened the entire C1 inhibitor coding region to identify...
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