Article
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.
Allergology international : official journal of the Japanese Society of Allergology - 1 Jul 2020
Vatsiou Sofia, Zamanakou Maria, Loules Gedeon, Psarros Fotis, Parsopoulou Faidra, Csuka Dorottya, Valerieva Anna, Staevska Maria, Porebski Grzegorz, Obtulowicz Krystyna, Magerl Markus, Maurer Marcus, Speletas Matthaios, Farkas Henriette, Germenis Anastasios E
Abstract excerpt
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 or untranslated regions of the gene. Using a next-generation sequencing (NGS) platform targeting the entire...
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