Functional Characterization of Two Novel Intron 4 <i>SERPING1</i> Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema

Functional Characterization of Two Novel Intron 4 <i>SERPING1</i> Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema

Variants that affect splice sites comprise 14.3% of all pathogenic variants in the <i>SERPING1</i> gene; more than half of them are located outside the canonical sites. To make a clinical decision concerning patients with such variants, it is essential to know the exact way in which the...

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Bibliographic Details
Main Authors: Olga Shchagina, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev, Aleksander Polyakov
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Biomedicines
Subjects:
<i>SERPING1</i>
hereditary angioedema
HAE
C1-INH
splicing
intron
Online Access:https://www.mdpi.com/2227-9059/12/1/72

Internet

https://www.mdpi.com/2227-9059/12/1/72

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