Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by recurrent life-threatening oedemas and/or abdominal pain and caused by mutations affecting the C1 inhibitor gene, SERPING1. We sought to investigate the spectrum of SERPING1 mutati...

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Publicat a:PLoS One
Autors principals: Andrejević, Slađana, Korošec, Peter, Šilar, Mira, Košnik, Mitja, Mijanović, Radovan, Bonači-Nikolić, Branka, Rijavec, Matija
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4633032/
https://ncbi.nlm.nih.gov/pubmed/26535898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0142174
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