Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Abstract Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disrupt normal pre‐mRNA splicing, has been related to a...

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Bibliographic Details
Main Authors: Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao
Format: Article
Language:English
Published: Wiley 2023-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exon splicing
exonic variant
Gitelman syndrome
minigene assay
SLC12A3
Online Access:https://doi.org/10.1002/mgg3.2128

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