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

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 variety...

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Detalles Bibliográficos
Autores principales: Shi, Xiaomeng, Wang, Hong, Zhang, Ruixiao, Liu, Zhiying, Guo, Wencong, Wang, Sai, Liu, Xuyan, Lang, Yanhua, Bottillo, Irene, Dong, Bingzi, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094094/
https://www.ncbi.nlm.nih.gov/pubmed/36597580
http://dx.doi.org/10.1002/mgg3.2128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094094/
https://www.ncbi.nlm.nih.gov/pubmed/36597580
http://dx.doi.org/10.1002/mgg3.2128

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