Article
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.
Clinical immunology (Orlando, Fla.) - 1 May 2013
Firinu Davide, Colomba Paolo, Manconi Paolo Emilio, Barca Maria P, Fenu Luisa, Piseddu Gavino, Zizzo Carmela, Del Giacco Stefano R, Duro Giovanni
Abstract excerpt
Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is an autosomal dominant disorder caused by mutations in SERPING1 gene. More than 200 different mutations are known, with high genetic heterogeneity and high frequency of private familial mutations. We analyzed for genetic mutations the C1-INH locus in 11 Sardinian families, revealing in seven subjects from four unrelated families the novel...
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