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...

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Detalles Bibliográficos
Autores principales: Ozkars, Mehmet Yasar, Keskın, Ozlem, Bayram, Nazan, Onay, Huseyin, Keskın, Mehmet, Bayram, Hasan, Sahın, Yavuz, Küçükosmanoğlu, Ercan, Kırık, Serkan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2019
Materias:
Original Paper
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

Internet

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

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