Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene

Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene

Abstract Background Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction...

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Bibliographic Details
Main Authors: Konrad Bork, Karin Wulff, Guenther Witzke, Thomas Machnig, Jochen Hardt
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary angioedema
Plasminogen
Genetics
Hereditary angioedema with normal C1 inhibitor
Icatibant
Plasma-derived C1-INH treatment
Online Access:http://link.springer.com/article/10.1186/s13023-020-1334-8

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