Associated Papers
Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.
Arias-Flórez JS et al.
Plos One, 2024
A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene.
Hida T et al.
The Journal of Dermatology, 2023
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C et al.
Frontiers in Allergy, 2022
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
Germenis AE et al.
Journal of Clinical Immunology, 2021
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
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.
Hujová P et al.
Journal of Clinical Immunology, 2020
First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual.
Rodríguez JA et al.
Journal of Clinical Immunology, 2018
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
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