Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

ConclusionsThree known and six novel mutations in theSERPING1 gene were identified, and they produced a truncated nonfunctional C1 inhibitor without a reactive central loop. All the mutations led to reduced expression ofSERPING1 mRNA in peripheral blood and low antigenic C1 inhibitor levels.
Source: Clinical and Translational Allergy - Category: Allergy & Immunology Source Type: research