Associated Papers
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.
Gao H et al.
Journal of Clinical Immunology, 2025
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.
Loli-Ausejo D et al.
Clinical Reviews in Allergy & Immunology, 2021
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.
Haslund D et al.
The Journal of Clinical Investigation, 2019
Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.
Madsen DE et al.
Plos One, 2014
Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.
Martinho A et al.
Molecular Immunology, 2013
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.
Bygum A et al.
Allergy, 2011
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
Gösswein T et al.
Cytogenetic and Genome Research, 2008
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