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