Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema - Bafunno, Valeria; Firinu, Davide; D'Apolito, Maria; Cordisco, Giorgia; Loffredo, Stefania; Leccese, Angelica; Bova, Maria; Barca, Maria Pina; Santacroce, Rosa; Cicardi, Marco; Del Giacco, Stefano; Margaglione, Maurizio (Journal of allergy and clinical immunology, 2018)
Keywords: Allergy and Immunology; Anaphylaxis; Angioedema; Angiopoietin; angiopoietin-1; Coagulation factor XII; Coagulation factors; Complement component C1; Deoxyribonucleic acid; DNA; Edema; Endothelial cells; gene; Hereditary angioedema; Kinases; Missense mutation; multimers; Mutation; Open source software; Permeability; Plasma; tunica interna endothelial cell kinase 2 receptor; angiopoietin-1; ANGPT2; ANGPT1; WES; gene; TIE2; F12; OMIM; multimers; HAE; C1-INH-HAE; mutation; Hereditary angioedema; FXII; U-HAE; C1-INH; tunica interna endothelial cell kinase 2 receptor; ITACA; tunica interna endothelial cell kinase-2; HAE with yet unknown genetic defect; Italian network for C1-INH-HAE; HAE due to C1-INH deficiency; angiopoietin-2; coagulation factor XII; TIE2 receptor; coagulation factor XII gene; HAE due to F12 deficiency; C1 inhibitor; FXII-HAE; whole-exome sequencing