Article
Alternative Splicing in CKD.
Journal of the American Society of Nephrology : JASN - 1 Jun 2016
Stevens Megan, Oltean Sebastian
Abstract excerpt
Alternative splicing (AS) has emerged in the postgenomic era as one of the main drivers of proteome diversity, with ≥94% of multiexon genes alternatively spliced in humans. AS is therefore one of the main control mechanisms for cell phenotype, and is a process deregulated in disease. Numerous reports describe pathogenic mutations in splice factors, splice sites, or regulatory sequences. Additionally, compared...
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