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Screening for type II hereditary angioedema—the “poor man’s c1-inhibitor function”

BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disease. Patients with type II HAE have normal or elevated C1-inhibitor (C1-INH) levels but C1-INH protein is dysfunctional. C1-INH function requires careful sample handling and technical expertise and may account for the lack of diagnosed pa...

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Detalles Bibliográficos
Autores principales: Jindal, Ankur Kumar, Chiang, Valerie, Barman, Prabal, Sil, Archan, Chawla, Sanchi, Au, Elaine Y.L., Rawat, Amit, Li, Philip H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661124/
https://www.ncbi.nlm.nih.gov/pubmed/38026504
http://dx.doi.org/10.1016/j.jacig.2023.100179

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