A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor - Bork, Konrad; Wulff, Karin; Meinke, Peter; Wagner, Nicola; Hardt, Jochen; Witzke, Günther (Clinical immunology (Orlando, Fla.), 2011)
Keywords: Adult; Allergic diseases; Allergy and Immunology; Angioedema; Angioedemas, Hereditary - blood; Angioedemas, Hereditary - genetics; Angioedemas, Hereditary - immunology; Base pairs; Biological and medical sciences; Coagulation factor XII; Coagulation factors; Codons; Complement C1 Inhibitor Protein - genetics; Complement C1 Inhibitor Protein - metabolism; DNA Mutational Analysis; Exons; Factor 12 gene mutation; Factor XII - chemistry; Factor XII - genetics; Factor XII Deficiency - blood; Factor XII Deficiency - genetics; Factor XII Deficiency - immunology; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gene deletion; Hereditary angioedema type III; Hereditary angioedema with normal C1-inhibitor; Humans; Immunopathology; Introns; Male; Medical sciences; Missense mutation; Mutation; Mutation, Missense; Pain; Pedigree; Point mutation; Sequence Deletion; Skin; Skin allergic diseases. Stinging insect allergies; Turkey - ethnology; Turkey; aPTT; F12; Angioedema; Hereditary angioedema with normal C1-inhibitor; Hereditary angioedema type III; HAE-C1-INH; FXIIa; HAE; bp; HAE-FXII; FXII; DNA; C1-INH; Factor 12 gene mutation; PCR; Coagulation factor XII; Activated coagulation factor XII; C1-esterase inhibitor; Activated partial thromboplastin time; Deoxyribonucleic acid; Hereditary angioedema with a mutation in the factor 12 gene; HAE due to C1-INH deficiency; Base pair(s); Coagulation factor 12 gene; Polymerase chain reaction; Hereditary angioedema; Human; Allergy; Immunopathology; Skin disease; Complement C1; with normal C1-inhibitor; Hereditary; Factor XII; Angioneurotic edema; Immunology; Gene; Genetics; Inhibitor; Mutation; type III; Coagulation factor