Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay

Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA normal splicing and induce exon skipping by altering various splicing regula...

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Detalles Bibliográficos
Autores principales: Xin, Qing, Liu, Qihua, Liu, Zhiying, Shi, Xiaomeng, Liu, Xuyan, Zhang, Ruixiao, Hong, Yefeng, Zhao, Xiangzhong, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452827/
https://www.ncbi.nlm.nih.gov/pubmed/36092934
http://dx.doi.org/10.3389/fgene.2022.961384

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452827/
https://www.ncbi.nlm.nih.gov/pubmed/36092934
http://dx.doi.org/10.3389/fgene.2022.961384

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