Article
The Expanding Spectrum of Mutations in Hereditary Angioedema.
The journal of allergy and clinical immunology. In practice - 1 Jun 2021
Veronez Camila Lopes, Csuka Dorottya, Sheikh Farrukh R, Zuraw Bruce L, Farkas Henriette, Bork Konrad
Abstract excerpt
The evolution in the knowledge of rare genetic diseases such as hereditary angioedema (HAE) has increased at a parallel pace with the development of new molecular tools. The deficiency of C1 inhibitor (C1-INH) has been recognized as the main cause of HAE (HAE-C1-INH) since the 1960s, but the discovery of the wide spectrum of mutations affecting the C1-INH gene (SERPING1) was possible only from the late 1980s,...
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