Associated Papers
Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder.
Rodriguez Espada A et al.
Blood Advances, 2025
41026970 (PubMed )
Supplement: BLOODA_ADV-2025-017220-mmc2.xlsx › Table_S2
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H et al.
Journal of Clinical Immunology, 2023
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Ballonová L et al.
Frontiers in Genetics, 2023
37470035 (PubMed )
Supplement: Table1.XLSX › Table_S1_patient_classification
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Cagini N et al.
Biological Chemistry, 2016
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 2015
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