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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主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2024-03-01
シリーズ:	World Allergy Organization Journal
主題:	Genetic testing Angioedemas Hereditary/epidemiology Hereditary/genetics Slovakia Complement C1 inhibitor protein
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S1939455124000164
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