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Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE)

Existing evidence indicates that modifier genes could change the phenotypic outcome of the causal SERPING1 variant and thus explain the expression variability of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE). To further examine this hypothesis, we investigated the presence or abs...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Faidra Parsopoulou, Gedeon Loules, Maria Zamanakou, Dorottya Csuka, Agnes Szilagyi, Maria Kompoti, Grzegorz Porebski, Fotis Psarros, Markus Magerl, Anna Valerieva, Maria Staevska, Krystyna Obtulowicz, Marcus Maurer, Matthaios Speletas, Henriette Farkas, Anastasios E. Germenis
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2022-07-01
Schriftenreihe:Frontiers in Allergy
Schlagworte:
C1-inhibitor deficiency
genetic biomarkers
functional variants
hereditary angioedema
long-term prophylaxis
next-generation sequencing
Online-Zugang:https://www.frontiersin.org/articles/10.3389/falgy.2022.868185/full
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