Associated Papers
Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.
Ren Z et al.
The Journal of Allergy and Clinical Immunology, 2023
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C et al.
Frontiers in Allergy, 2022
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.
Willems E et al.
Clinical & Translational Immunology, 2020
33318796 (PubMed )
Supplement: CTI2-9-e1225-s001.pdf
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
Bafunno V et al.
Annals of Human Genetics, 2014
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
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