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...

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Hlavní autoři: 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
Médium: Revisão
Jazyk:angličtina
Vydáno: 2022
On-line přístup:https://doi.org/10.3389/falgy.2022.835503
https://www.frontiersin.org/articles/10.3389/falgy.2022.835503/pdf
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https://doi.org/10.3389/falgy.2022.835503
https://www.frontiersin.org/articles/10.3389/falgy.2022.835503/pdf

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