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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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Autori principali: Christian Drouet, Alberto López-Lera, Arije Ghannam, Margarita López-Trascasa, Sven Cichon, Denise Ponard, Faidra Parsopoulou, Hana Grombirikova, Tomáš Freiberger, Matija Rijavec, Camila L. Veronez, João Bosco Pesquero, Anastasios E. Germenis
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2022-03-01
Serie:Frontiers in Allergy
Soggetti:
C1-INH-HAE
C1 Inhibitor
SERPING1 gene
genetic variation
serpin function
serpinopathy
Accesso online:https://www.frontiersin.org/articles/10.3389/falgy.2022.835503/full
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