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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Detalles Bibliográficos
Autores principales: Caccia, Sonia, Suffritti, Chiara, Carzaniga, Thomas, Berardelli, Romina, Berra, Silvia, Martorana, Vincenzo, Fra, Annamaria, Drouet, Christian, Cicardi, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772639/
https://www.ncbi.nlm.nih.gov/pubmed/29343682
http://dx.doi.org/10.1038/s41598-017-16667-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772639/
https://www.ncbi.nlm.nih.gov/pubmed/29343682
http://dx.doi.org/10.1038/s41598-017-16667-w

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