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A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene

✍ Scribed by Büyüköztürk, Suna; Eroğlu, Belgin Kesim; Gelincik, Aslı; Üzümcü, Abdullah; Özşeker, Ferhan; Çolakoğlu, Bahattin; Dal, Murat; Uyguner, Z. Oya

Book ID
119281146
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
161 KB
Volume
123
Category
Article
ISSN
1097-6825

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✍ Lajos Kalmár; Tamás Hegedüs; Henriette Farkas; Melinda Nagy; Attila Tordai 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB

Communicated by A. Jamie Cuticchia Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema and is caused by the deficiency of the activated C1 esterase inhibitor protein (C1-INH or C1INH; approved gene symbol SERPING1).