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Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor

23 Oct 2020

Abstract excerpt

The genetic alteration underlying the great majority of primary angioedema with normal C1 inhibitor (nl-C1-INH-HAE) cases remains unknown. To search for variants associated with nl-C1-INH-HAE, we genotyped 133 unrelated nl-C1-INH-HAE patients using a custom next-generation sequencing platform targeting 55 genes possibly involved in angioedema pathogenesis. Patients already diagnosed with F12 alterations as well...

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PMID: 33114181
DOI: 10.3390/jcm9113402

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