https://www.selleckchem.com/pr....oducts/cilengitide-e
One showed only normal transcript production and was thus suspected of not being pathogenic (c.106-17TG). CONCLUSION We found that five CLCN5 variants disrupted the original splice site, resulting in aberrant splicing. It is sometimes difficult to obtain mRNA from patient samples because of the fragility of mRNA or its low expression level in peripheral leukocytes. Our in vitro system can be used as an alternative to in vivo assays to determine the pathogenicity of suspected splicing variants.Humans intense