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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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Autori principali: Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2024-02-01
Serie:Molecular Genetics & Genomic Medicine
Soggetti:
Alport syndrome
COL4A5
exon splicing
exonic variant
minigene analysis
Accesso online:https://doi.org/10.1002/mgg3.2395
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