Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent edema attacks associated with morbidity and mortality. HAE results from variations in the SERPING1 gene that encodes the C1 inhibitor (C1INH), a serine protease inhibitor (serpin). Reduced plasma levels of C1INH...

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Bibliografske podrobnosti
izdano v:J Clin Invest
Main Authors: Haslund, Didde, Ryø, Laura Barrett, Seidelin Majidi, Sara, Rose, Iben, Skipper, Kristian Alsbjerg, Fryland, Tue, Bohn, Anja Bille, Koch, Claus, Thomsen, Martin K., Palarasah, Yaseelan, Corydon, Thomas J., Bygum, Anette, Nejsum, Lene N., Mikkelsen, Jacob Giehm
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2018
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307969/
https://ncbi.nlm.nih.gov/pubmed/30398465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI98869
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