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