Five novel mutations in the C1 inhibitor
✍
Tomáš Freiberger; Lenka Kolárová; Pavel Mejstrík; Martina Vyskocilová; Pavel Kuk
📂
Article
📅
2002
🏛
John Wiley and Sons
🌐
English
⚖ 159 KB
Communicated by Mark H. Paalman Hereditary angioedema (HAE) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 inh, or C1NH). Most patients with HAE have an ab