Assessing the impact of a rare synonymous variant in the <i>KNG1</i> gene on the development of hereditary angioedema

Assessing the impact of a rare synonymous variant in the <i>KNG1</i> gene on the development of hereditary angioedema

The main cause of edema in hereditary angioedema (HAE) is due to elevated bradykinin levels, caused either by C1-INH deficiency/change in functional activity and caused by mutations in the SERPING1 gene or by mutations in the F12, PLG, ANGPT1, KNG1, MYOF and HS3ST6 genes with a normal level and func...

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Bibliographic Details
Main Authors: N. A. Pechnikova, Yu. V. Ostankova, M. A. Saitgalina, A. M. Bebyakov, A. A. Totolian
Format: Article
Language:Russian
Published: St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists 2024-01-01
Series:Медицинская иммунология
Subjects:
primary immunodeficiencies
hereditary angioedema
mutation pathogenicity analysis
in silico analysis
kng1
rare synonymous variant
Online Access:https://www.mimmun.ru/mimmun/article/view/2840

Internet

https://www.mimmun.ru/mimmun/article/view/2840

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