BIOINFORMATIC ANALYSIS OF SINGLE NUCLEOTIDE VARIANTS IN THE F12 GENE ASSOCIATED WITH HEREDITARY ANGIOEDEMA

AbstractHereditary angioedema (HAE) is a genetically determined disorder classified as a primary immunodeficiency involving complement system dysfunction. In most patients, the disease is characterized by a deficiency of C1 inhibitor (type I HAE) or impaired functional activity of the C1 inhibitor (...

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Bibliographic Details
Main Authors: Anna Sedykh, Yulia Ostankova, Alexandr Schemelev, Areg Totolian
Format: Article
Language:Russian
Published: St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists 2019-08-01
Series:Медицинская иммунология
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Online Access:https://www.mimmun.ru/mimmun/article/view/3235
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