Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are described as missense, synonymous or nonsense mutations in the l...

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Detalles Bibliográficos
Autores principales: Liu, Xuyan, Shi, Xiaomeng, Xin, Qing, Liu, Zhiying, Pan, Fengjiao, Qiao, Dan, Chen, Mengke, Zhang, Yiyin, Guo, Wencong, Li, Changying, Zhang, Yan, Shao, Leping, Zhang, Ruixiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354997/
https://www.ncbi.nlm.nih.gov/pubmed/37468838
http://dx.doi.org/10.1186/s12864-023-09444-9

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