SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene ( n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and pertaining to 5.6% de novo variants. C1-INH is the...
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| Main Authors: | , , , , , , , , , , , , |
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| 格式: | Revisão |
| 语言: | 英语 |
| 出版: |
2022
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| 在线阅读: | https://doi.org/10.3389/falgy.2022.835503 https://www.frontiersin.org/articles/10.3389/falgy.2022.835503/pdf |
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