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The Genetics of Hereditary Angioedema: A Review

9 May 2021

Abstract excerpt

Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 esterase inhibitor), are responsible for the majority of cases of hereditary angioedema. C1 esterase inhibitor...

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PMID: 34065094
DOI: 10.3390/jcm10092023

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