[HTML][HTML] Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses
Z Ren, S Zhao, T Li, HJ Wedner, JP Atkinson - Journal of Allergy and …, 2023 - Elsevier
Background The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are
substantial variabilities in the clinical presentations of patients with HAE that are not directly
correlated to the serum levels of C1-INH. The impact of SERPING1 variants on C1-INH
expression, structure, and function is incompletely understood. Objective To investigate the
influence of SERPING1 variants on the C1-INH expression, structure, and function of 20 …
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are
substantial variabilities in the clinical presentations of patients with HAE that are not directly
correlated to the serum levels of C1-INH. The impact of SERPING1 variants on C1-INH
expression, structure, and function is incompletely understood. Objective To investigate the
influence of SERPING1 variants on the C1-INH expression, structure, and function of 20 …