Articles with "pseudoexon causing" as a keyword



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Urine mRNA to identify a novel pseudoexon causing dystrophinopathy

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Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.777

Abstract: In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine “liquid biopsy,” droplet digital PCR, and sequencing of PCR products to identify… read more here.

Keywords: identify novel; pseudoexon causing; novel pseudoexon; urine mrna ... See more keywords