Article
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
Clinical and experimental immunology - 1 Jun 2017
Steiner U C, Keller M, Schmid P, Cichon S, Wuillemin W A
Abstract excerpt
Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in other countries, the genetic background of the Swiss HAE patients has not yet been elucidated. In the present study we...
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