A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of SERPING1 after conventional genotyping were examined for defects in the intronic...

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Main Authors: Sofia Vatsiou, Maria Zamanakou, Gedeon Loules, Fotis Psarros, Faidra Parsopoulou, Dorottya Csuka, Anna Valerieva, Maria Staevska, Grzegorz Porebski, Krystyna Obtulowicz, Markus Magerl, Marcus Maurer, Matthaios Speletas, Henriette Farkas, Anastasios E. Germenis
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020-07-01
Colecção:Allergology International
Assuntos:
C1-inhibitor deficiency
Hereditary angioedema
Intronic mutations
Next-generation sequencing
SERPING1 gene
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1323893020300034
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