Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping

Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping

BackgroundHereditary angioedema (HAE) is an autosomal dominant genetic disorder caused by mutations in the C1 esterase inhibitor gene, SERPING1, leading to overproduction of bradykinin and debilitating swelling attacks. Variants in the SERPING1 gene are typically detected in a clinical setting by DN...

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Bibliographic Details
Main Authors: Keith Wetherby, Joseph Chiao, Emily Faulkner, Yongjian Guo, Shaobin Hou, J. Joanna Yu, Jinguo Chen, Lili Wan, H. Henry Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Allergy
Subjects:
SERPING1
hereditary angioedema (HAE)
multiplex ligation-dependent probe amplification (MLPA)
c1-inhibitor (C1INH)
soft clipping
next generation sequencing (NGS)
Online Access:https://www.frontiersin.org/articles/10.3389/falgy.2025.1565283/full
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https://www.frontiersin.org/articles/10.3389/falgy.2025.1565283/full

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