Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Abstract Background X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre‐mRNA by altering various splicing regulat...

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Bibliographic Details
Main Authors: Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Format: Article
Language:English
Published: Wiley 2024-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alport syndrome
COL4A5
exon splicing
exonic variant
minigene analysis
Online Access:https://doi.org/10.1002/mgg3.2395

Internet

https://doi.org/10.1002/mgg3.2395

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