Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency - 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; et al. (Gene, 2018)
Keywords: analytical specificity; Copy number variation; detection limit; DNA; genes; genetic testing; genotyping; high-throughput nucleotide sequencing; Novel SERPING1 mutations; patients; SERPING1 gene; C1-INH-HAE; Copy number variation; MLPA; CI; SERPING1-NGS platform; U-HAE; C1-INH; CNV; SNV; Novel SERPING1 mutations; NGS; SERPING1 gene