Hereditary Angioedema Without C1 Inhibitor Deficiency: Observation Of Patients Homozygous For FXII GENE Mutation
β Scribed by Stieber, Christiane; Veronez, Camila; Cagini, Nathalia; Cordeiro, Elisabete; Grumach, Anete S.; Constantino-Silva, Rosemeire; Pesquero, Joao Bosco; Cichon, Sven
- Book ID
- 122255089
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 44 KB
- Volume
- 133
- Category
- Article
- ISSN
- 1097-6825
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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