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

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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Christian Drouet, Alberto López‐Lera, Arije Ghannam, Margarita López‐Trascasa, Sven Cichon, D. Ponard, Faidra Parsopoulou, Hana Grombiříková, Tomáš Freiberger, Matija Rijavec, Camila Lopes Veronez, João Bosco Pesquero, Anastasios E. Germenis
Format: Revisão
Langue:anglais
Publié: 2022
Accès en ligne:https://doi.org/10.3389/falgy.2022.835503
https://www.frontiersin.org/articles/10.3389/falgy.2022.835503/pdf
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Internet

https://doi.org/10.3389/falgy.2022.835503
https://www.frontiersin.org/articles/10.3389/falgy.2022.835503/pdf

Documents similaires