Associated Papers
Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.
Markocsy A et al.
The World Allergy Organization Journal, 2024
Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).
Nabilou S et al.
Immunological Investigations, 2022
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB et al.
Frontiers in Immunology, 2022
Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.
Guryanova I et al.
Clinical and Molecular Allergy : Cma, 2021
Characteristics of patients with C1 esterase inhibitor deficiency: a single center study.
Soyak Aytekin E et al.
European Annals of Allergy and Clinical Immunology, 2021
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed
Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance.
Rasmussen ER et al.
Bmj Case Reports, 2019
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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