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Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema

✍ Scribed by Martinho, A.; Mendes, J.; Simões, O.; Nunes, R.; Gomes, J.; Castro, E. Dias; Leiria-Pinto, P.; Ferreira, M.B.; Pereira, C.; Castel-Branco, M.G.; Pais, L.


Book ID
120227363
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
184 KB
Volume
53
Category
Article
ISSN
0161-5890

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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