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Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency

Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) type I and II is a rare and life-threatening disease caused by SERPING1 gene mutations. Previous genetic studies indicated a wide spectrum of disease-associated variants in the SERPING1 gene and often lack of correlation with patient’...

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Detalles Bibliográficos
Autores principales: OBTULOWICZ, KRYSTYNA, KSIĄŻEK, TEOFILA, BOGDALI, ANNA, DYGA, WOJCIECH, CZARNOBILSKA, EWA, JUCHACZ, ALDONA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790005/
https://www.ncbi.nlm.nih.gov/pubmed/33437182
http://dx.doi.org/10.5114/ceji.2020.101252