Associated Papers
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.
Gaviria-Sabogal CC et al.
Human Molecular Genetics, 2025
Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.
Arias-Flórez JS et al.
Plos One, 2024
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
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
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
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