SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene (n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and pertaining to 5.6% de novo variants. C1-INH is the...

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Detalles Bibliográficos
Autores principales: Drouet, Christian, López-Lera, Alberto, Ghannam, Arije, López-Trascasa, Margarita, Cichon, Sven, Ponard, Denise, Parsopoulou, Faidra, Grombirikova, Hana, Freiberger, Tomáš, Rijavec, Matija, Veronez, Camila L., Pesquero, João Bosco, Germenis, Anastasios E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Allergy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361472/
https://www.ncbi.nlm.nih.gov/pubmed/35958943
http://dx.doi.org/10.3389/falgy.2022.835503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361472/
https://www.ncbi.nlm.nih.gov/pubmed/35958943
http://dx.doi.org/10.3389/falgy.2022.835503

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