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De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema

✍ Scribed by Bafunno, Valeria; Divella, Chiara; Sessa, Francesco; Tiscia, Giovanni Luca; Castellano, Giuseppe; Gesualdo, Loreto; Margaglione, Maurizio; Montinaro, Vincenzo

Book ID: 123418312
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 844 KB
Volume: 132
Category: Article
ISSN: 1097-6825
DOI: 10.1016/j.jaci.2013.04.006

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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