https://www.selleckchem.com/pr....oducts/sar439859.htm
Our study supplies further supporting evidence that the synonymous COL5A2 mutation c.1977 GA can cause skipping of exon 29 in the RNA transcript, thus resulting in the production of mutant α2(V)-chains and clinical phenotype of cEDS. This result highlights the need to include splicing-altering synonymous mutations into the screening for cEDS. A can cause skipping of exon 29 in the RNA transcript, thus resulting in the production of mutant α2(V)-chains and clinical phenotype of cEDS. This result highlights the need to include splic
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