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Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses

BACKGROUND: The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are substantial variabilities in the clinical presentations of patients with HAE that are not directly correlated to the serum leve...

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Detalles Bibliográficos
Autores principales: Ren, Zhen, Zhao, Shuangxia, Li, Tiandao, Wedner, H. James, Atkinson, John P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449387/
https://www.ncbi.nlm.nih.gov/pubmed/36587848
http://dx.doi.org/10.1016/j.jaci.2022.11.027