Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

BACKGROUND: Familial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants. However, there is growing evidence that some of these variants can be detrimental by affecting the pre-mRNA splicing...

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Detalles Bibliográficos
Autores principales: Wang, Sai, Wang, Yixiu, Wang, Jinchao, Liu, Zhiying, Zhang, Ruixiao, Shi, Xiaomeng, Han, Yue, Guo, Wencong, Bottillo, Irene, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674938/
https://www.ncbi.nlm.nih.gov/pubmed/33250922
http://dx.doi.org/10.3389/fgene.2020.585064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674938/
https://www.ncbi.nlm.nih.gov/pubmed/33250922
http://dx.doi.org/10.3389/fgene.2020.585064

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