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Complex analysis of the national Hereditary angioedema cohort in Slovakia – Identification of 12 novel variants in SERPING1 gene

Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability. Objective: Here we present the first complex analysis of the National HAE Slovakian cohort wi...

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Principais autores: Adam Markocsy, MD, Katarina Hrubiskova, MD, Martin Hrubisko, MD, PhD, Tomas Freiberger, MD, PhD, Hana Grombirikova, MSc, Lenka Dolesova, MSc, PhD, Ludmila Slivka Vavrova, MSc, PhD, Regina Lohajova Behulova, MSc, PhD, Martina Ondrusova, MSc, PhD, MPH, Peter Banovcin, MD, PhD, Karolina Vorcakova, MD, PhD, Milos Jesenak, MD, MSc, PhD, MBA, MHA, FAAAAI
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2024-03-01
Serier:World Allergy Organization Journal
Fag:
Genetic testing
Angioedemas
Hereditary/epidemiology
Hereditary/genetics
Slovakia
Complement C1 inhibitor protein
Online adgang:http://www.sciencedirect.com/science/article/pii/S1939455124000164
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