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A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation
Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an ery...
Autores principales: | Sim, Da Woon, Park, Kyung Hee, Lee, Jae-Hyun, Park, Jung-Won |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Asthma, Allergy and Clinical Immunology; The Korean Academy of Pediatric Allergy and Respiratory Disease
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102842/ https://www.ncbi.nlm.nih.gov/pubmed/27826968 http://dx.doi.org/10.4168/aair.2017.9.1.96 |
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