https://www.selleckchem.com/pr....oducts/6-diazo-5-oxo
3c.930+77AG deep intronic change). This makes the c.1468-128TG the most frequent RPGRIP1 disease allele (8/60, 13%) in our cohort. Studying patient lymphoblasts, we show that the pathologic variant creates a donor splice-site and leads to the insertion of the pseudo-exon in the mRNA, which we were able to hamper using splice-switching antisense oligonucleotides (AONs), paving the way to therapies.The aim of this article was to investigate the knowledge, management, and clinical practice of Italian physiotherap
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