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Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene
BACKGROUND: Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1-inbitor gene SERPING1 and are classified as type 1 and type 2. We aimed to detect mutations in the SE...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694933/ https://www.ncbi.nlm.nih.gov/pubmed/33292549 http://dx.doi.org/10.1186/s13601-020-00360-9 |