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Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

27 Nov 2020

Abstract excerpt

BACKGROUND: Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1-inbitor gene SERPING1 and are classified as type 1 and type 2. We aimed to detect mutations in the SERPING1 gene and evaluate its expression in nine probands with hereditary angioedema from nine different families....

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PMID: 33292549
DOI: 10.1186/s13601-020-00360-9

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Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 genePMID 33292549Read ↗

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