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...

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Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2022-07-01
Σειρά:	Frontiers in Allergy
Θέματα:	C1-inhibitor deficiency genetic biomarkers functional variants hereditary angioedema long-term prophylaxis next-generation sequencing
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/falgy.2022.868185/full
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