Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene

Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by swelling of the face, lips, tongue, larynx, genitalia, or extremities, with abdominal pain caused by intra-abdominal edema. HAE is caused by mutations affecting the C1 inhibitor gene, SERPING1, resulting in low levels...

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Detalles Bibliográficos
Autores principales: Rijavec, Matija, Korošec, Peter, Šilar, Mira, Zidarn, Mihaela, Miljković, Jovan, Košnik, Mitja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3577750/
https://www.ncbi.nlm.nih.gov/pubmed/23437219
http://dx.doi.org/10.1371/journal.pone.0056712

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