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Urine mRNA to identify a novel pseudoexon causing dystrophinopathy

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 a novel cryptic splice site in DMD intron 67 that causes dystro...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Clin Transl Neurol
Egile Nagusiak: Antoury, Layal, Hu, Ningyan, Darras, Basil, Wheeler, Thurman M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6562067/
https://ncbi.nlm.nih.gov/pubmed/31211175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.777
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