Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structura...
Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 angioedema is unpredictable, and the molecular mec...
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Full title
Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5772639
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5772639
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-16667-w
