Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema-Reference-Cited by-同舟云学术

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

Published:2014-02 Issue:2 Volume:150 Page:143-148
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Colobran Roger,Lois Sergio,de la Cruz Xavier,Pujol-Borrell Ricardo,Hernández-González Manuel^ORCID,Guilarte Mar

Funder

PI11/1086

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference24 articles.

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4. Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part I. Classification, epidemiology, pathophysiology, genetics, clinical symptoms, and diagnosis;Caballero;J. Investig. Allergol. Clin. Immunol.,2011

5. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress;Cugno;Trends Mol. Med.,2009

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1. Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema;Biomedicines;2023-12-28

2. SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE;Frontiers in Allergy;2022-03-31

3. Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations);Immunological Investigations;2020-09-08

4. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency;Allergology International;2020-07

5. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation;Journal of Clinical Immunology;2020-01-25