Associated Papers
Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping.
Wetherby K et al.
Frontiers in Allergy, 2025
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Wang X et al.
Hereditas, 2022
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
Gene variants of coagulation related proteins that interact with SARS-CoV-2.
Holcomb D et al.
Plos Computational Biology, 2021
Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2.
Holcomb D et al.
Biorxiv : the Preprint Server for Biology, 2020
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
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
Bork K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Bork K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Genetics of Hereditary Angioedema Revisited.
Germenis AE et al.
Clinical Reviews in Allergy & Immunology, 2016
Genetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencing.
Veronez CL et al.
Biological Chemistry, 2016
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
Bafunno V et al.
Annals of Human Genetics, 2014
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema.
Bafunno V et al.
The Journal of Allergy and Clinical Immunology, 2013
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.
Bygum A et al.
Allergy, 2011