Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

Abstract excerpt

Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal-dominant disease caused by mutations in SERPING1 gene. The main clinical feature of C1INH deficiency is the spontaneous edema of the subcutaneous and submucosal layers. More than 280 different mutations scattering the entire SERPING1 gene have been reported. We identified and characterized a new mutation in SERPING1 gene in a...

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• Angioedemas, Hereditary
• Complement C1 Inactivator Proteins
• Complement C1 Inhibitor Protein
• Models, Molecular
• Nucleic Acid Conformation