Article
New insights into hereditary angio-oedema: Molecular diagnosis and therapy.
The Australasian journal of dermatology - 1 Aug 2010
Nagy Nikoletta, Grattan Clive E, McGrath John A
Abstract excerpt
Hereditary angio-oedema (HAE) is a rare but potentially life-threatening condition. Three types are now recognized. Types I and II HAE involve mutations in the C1NH (SERPING1) gene, encoding the C1 inhibitor protein, whereas type III HAE involves mutations in the F12 gene, encoding coagulation factor XII (Hageman factor). They share a common final pathway leading to increased bradykinin formation. HAE must be...
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