T", at the SERPING1 gene">

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G > T", at the SERPING1 gene


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Ozkars M. Y. , Keskin O., Bayram N., Onay H. , Keskin M., Bayram H., ...More

POSTEPY DERMATOLOGII I ALERGOLOGII, vol.36, pp.403-411, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36
  • Publication Date: 2019
  • Doi Number: 10.5114/ada.2018.78898
  • Title of Journal : POSTEPY DERMATOLOGII I ALERGOLOGII
  • Page Numbers: pp.403-411

Abstract

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.