Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema
β Scribed by Pappalardo, Emanuela; Cicardi, Marco; Duponchel, Christiane; Carugati, Anna; Choquet, Sylvain; Agostoni, Angelo; Tosi, Mario
- Book ID
- 119765027
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 175 KB
- Volume
- 106
- Category
- Article
- ISSN
- 1097-6825
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Hereditary angioedema (HAE) is due to a variety of defects in the C1 inhibitor gene (C1NH gene), including approximately 20% of partial deletions/duplications whose boundaries are usually within Alu repeats. To ensure complete molecular characterization of C1 inhibitor deficiencies a fluorescent mul
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
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