Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene

BACKGROUND: Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. Aim of...

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Detalles Bibliográficos
Autores principales: Bork, Konrad, Wulff, Karin, Witzke, Guenther, Machnig, Thomas, Hardt, Jochen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026952/
https://www.ncbi.nlm.nih.gov/pubmed/32066472
http://dx.doi.org/10.1186/s13023-020-1334-8

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