Home therapy with intravenous human C1-inhibitor in children and adolescents with hereditary angioedema
✍ Scribed by Wolfhart Kreuz; Eva Rusicke; Inmaculada Martinez-Saguer; Emel Aygören-Pürsün; Christine Heller; Thomas Klingebiel
- Book ID
- 109146533
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 109 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0372-1248
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Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor gene (SERPING1, C1NH) and the result is C1 inhibitor deficiency, either in levels or function. We have searched exon 8 for mutations by direct sequencing and analyzed the rest of the exons by SSCP in 87 Spanish families affected
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