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Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema

Hereditary angioedema with C1 inhibitor deficiency (C1‐INH‐HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in othe...

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Detalhes bibliográficos
Publicado no:Clin Exp Immunol
Main Authors: Steiner, U. C., Keller, M., Schmid, P., Cichon, S., Wuillemin, W. A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5422714/
https://ncbi.nlm.nih.gov/pubmed/28194776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cei.12941
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