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
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
Hereditary angioedema: molecular and clinical differences among European populations.
Speletas M et al.
The Journal of Allergy and Clinical Immunology, 2015
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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