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
Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.
Christodoulou E et al.
Pigment Cell & Melanoma Research, 2021
32767816 (PubMed )
Supplement: PCMR-34-122-s006.xlsx › Sheet1
Hereditary angioedema: a Chinese perspective.
Liu S et al.
European Journal of Dermatology : Ejd, 2019
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
Xu YY et al.
Allergy, 2012
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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