Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema.
Nagy
Nikoletta
N
Greaves
Malcolm W
MW
Tanaka
Akio
A
McGrath
John A
JA
Grattan
Clive E
CE
D019943:Amino Acid Substitution / Q000235:genetics; D054179:Angioedemas, Hereditary / Q000235:genetics* / Q000378:metabolism; D003174:Complement C1 Inactivator Proteins / Q000235:genetics / Q000378:metabolism; D050718:Complement C1 Inhibitor Protein; D005091:Exons / Q000235:genetics; D005174:Factor XII / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007610:Kallikreins / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D006113:United Kingdom
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D005174:Factor XII; D007610:Kallikreins