Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Abstract Background Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent edema and a potentially fatal risk. Despite its severity, there is a notable lack of effective methods for predicting and preventing HAE attacks. This study aims to thoroughly inve...

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Hlavní autoři:	Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-09-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Apoptosis Ca2+ overload C1-INH Hereditary angioedema SERPING1 pathogenic variant
On-line přístup:	https://doi.org/10.1186/s13023-024-03306-7
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