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A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, “1033G>T”, at the SERPING1 gene
INTRODUCTION: Hereditary angioedema (HAE) may be fatal and diagnosis can be delayed up to 10 years. We aimed to screen HAE in two villages based on an index case of HAE and to investigate for the mutation of the C1 esterase inhibitor (C1-INH) gene. MATERIAL AND METHODS: A total of 124 people were sc...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Termedia Publishing House
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791162/ https://www.ncbi.nlm.nih.gov/pubmed/31616213 http://dx.doi.org/10.5114/ada.2018.78898 |