Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Abstract Background Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mutations linked to the HAE phenotype have been identified. Our aim was to...

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Bibliographic Details
Main Authors: Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty, Jochen Hardt
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary angioedema
Hereditary angioedema with normal C1 inhibitor
HAE with a specific mutation in the F12 gene
HAE with a specific mutation in the plasminogen gene
HAE with a specific mutation in the angiopoietin-1 gene
HAE with a specific mutation in the kininogen-1 gene
Online Access:http://link.springer.com/article/10.1186/s13023-020-01570-x

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