Article
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Gene - 15 Aug 2018
Loules Gedeon, Zamanakou Maria, Parsopoulou Faidra, Vatsiou Sofia, Psarros Fotis, Csuka Dorottya, Porebski Grzegorz, Obtulowicz Krystyna, Valerieva Anna, Staevska Maria, López-Lera Alberto, López-Trascasa Margarita, Moldovan Dumitru, Magerl Markus, Maurer Marcus, Speletas Matthaios, Farkas Henriette, Germenis Anastasios E
Abstract excerpt
SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection of C1-INH-HAE-associated SERPING1 variants are cumbersome and time-demanding with many pitfalls. To take advantage of the benefits of next-generation sequencing (NGS) technology, we developed and...
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