Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin

MeSH terms

• Amino Acid Sequence
• Angioedemas, Hereditary / etiology*
• Angioedemas, Hereditary / metabolism*
• Bradykinin / chemistry
• Bradykinin / metabolism*
• Complement C1 Inhibitor Protein / genetics
• Female
• Genetic Association Studies
• Genetic Predisposition to Disease
• Humans
• Kininogens / genetics*
• Male
• Mutation*
• Pedigree
• Protein Interaction Domains and Motifs*
• Proteolysis