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Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema

✍ Scribed by Firinu, Davide; Colomba, Paolo; Manconi, Paolo Emilio; Barca, Maria P.; Fenu, Luisa; Piseddu, Gavino; Zizzo, Carmela; del Giacco, Stefano R.; Duro, Giovanni

Book ID: 122395298
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 287 KB
Volume: 147
Category: Article
ISSN: 1090-2341
DOI: 10.1016/j.clim.2013.03.007

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## Communicated by Daniel F. Schorderet Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10 with type II HAE) by SSCP, sequencing, Southe