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Izvirni znanstveni članek
Oznake: C1 inhibitor;C1-inhibitor deficiency;SERPING1 gene;
Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. Results: All 15 patients from six unrelated families were diagnosed ...
Leto: 2018 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Pregledni znanstveni članek
Oznake: C1 inhibitor;SERPING1 gene;children;
Hereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin swelling, abdominal pain and life-threatening episod ...
Leto: 2019 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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