Mutation update of SERPING1 related to hereditary angioedema in the Chinese population

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population

Abstract Background Hereditary angioedema (HAE) is a rare disease characterized by recurrent attacks of severe swellings of the skin and submucosa. More than 900 variants of the SERPING1 gene associated with HAE have been identified. However, only approximately 50 variants have been identified in th...

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Bibliographic Details
Main Authors: Xue Wang, Shubin Lei, Yingyang Xu, Shuang Liu, Yuxiang Zhi
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Hereditas
Subjects:
C1 inhibitor
Hereditary angioedema
Mutational analysis
Phenotype
SERPING1
Online Access:https://doi.org/10.1186/s41065-022-00242-z

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