Associated Papers
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
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.
Vatsiou S et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2020
Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.
Obtulowicz K et al.
Central-european Journal of Immunology, 2020
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.
Colobran R et al.
Journal of Clinical Immunology, 2014
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