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
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
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules G et al.
Gene, 2018
Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
Duponchel C et al.
Human Mutation, 2006
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