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Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight
C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary...
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| Udgivet i: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group UK
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5772639/ https://ncbi.nlm.nih.gov/pubmed/29343682 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-16667-w |
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