✦ LIBER ✦

Mutational Spectrum of the C1 Inhibitor Gene in a Cohort of Italian Patients with Hereditary Angioedema: Description of Nine Novel Mutations

✍ Scribed by Bafunno, Valeria; Bova, Maria; Loffredo, Stefania; Divella, Chiara; Petraroli, Angelica; Marone, Gianni; Montinaro, Vincenzo; Margaglione, Maurizio; Triggiani, Massimo

Book ID: 125849366
Publisher: John Wiley and Sons
Year: 2014
Tongue: English
Weight: 722 KB
Volume: 78
Category: Article
ISSN: 0003-4800
DOI: 10.1111/ahg.12052

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel and recurrent C1 inhibitor gene mu

Novel and recurrent C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema

✍ Iwamoto, Kazumasa; Tanaka, Akio; Hiragun, Makiko; Kawai, Mikio; Mihara, Shoji; T 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 304 KB

Mutational spectrum of the C1INH (SERPIN

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema

✍ Göβwein, T.; Kocot, A.; Emmert, G.; Kreuz, W.; Martinez-Saguer, I.; Ay 📂 Article 📅 2008 🏛 S. Karger AG 🌐 French ⚖ 199 KB

Detection of C1 inhibitor mutations in p

Detection of C1 inhibitor mutations in patients with hereditary angioedema

✍ Zuraw, Bruce L.; Herschbach, Jack 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 152 KB

Mutation screening of the C1 inhibitor g

Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema

✍ Lajos Kalmár; András Bors; Henriette Farkas; Szilvia Vas; Barbara Fandl; Lilian 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB

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

De novo homozygous mutation of the C1 in

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

✍ Bafunno, Valeria; Divella, Chiara; Sessa, Francesco; Tiscia, Giovanni Luca; Cast 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 844 KB

Identification of a novel mutation of C1

Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema*1

✍ ZHI, Y 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 24 KB