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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :PLoS One
Главные авторы: Andrejević, Slađana, Korošec, Peter, Šilar, Mira, Košnik, Mitja, Mijanović, Radovan, Bonači-Nikolić, Branka, Rijavec, Matija
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2015
Предметы:
Research Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы