Article
Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.
BMC genomics - 19 Jul 2023
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
Abstract excerpt
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 literature or databases, may be deleterious by affecting the pre-mRNA splicing process. RESULTS: This study aimed to...
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