Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema - Firinu, Davide; Colomba, Paolo; Manconi, Paolo Emilio; Barca, Maria P.; Fenu, Luisa; Piseddu, Gavino; Zizzo, Carmela; del Giacco, Stefano R.; Duro, Giovanni (Clinical immunology (Orlando, Fla.), 2013)
Keywords: Adolescent; Allergy and Immunology; Angioedemas, Hereditary - genetics; C1-inhibitor; Child; Child, Preschool; Complement C1 Inactivator Proteins - genetics; Complement C1 Inhibitor Protein; Female; Founder effect; HAE; Hereditary angioedema; Humans; Italy - epidemiology; Male; Mutation; SERPING1; Young Adult; C1-inhibitor; HRM; Hereditary angioedema; C1-INH; SERPING1; Mutation; Founder effect; HAE; PCR; C1 inhibitor; Serpin peptidase inhibitor clade G, member 1; Polymerase chain reaction; High resolution melting