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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Autors principals:	Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2024-02-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	Alport syndrome COL4A5 exon splicing exonic variant minigene analysis
Accés en línia:	https://doi.org/10.1002/mgg3.2395
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