https://www.selleckchem.com/pr....oducts/pterostilbene
Ten different mutations were identified in these 13 patients, consisting of missense, nonsense, frameshift and splicing defect-causing mutations. The ten mutations were c.275GC (p.Trp92Ser), c.819_820insT (p.Thr274Tyrfs*32), c.830AG (p.Tyr277Cys), c.5CT (p.Ala2Val), c.826TC (p.Tyr276His), c.79CT (p.Gln27*), c.188CA (p.Ser63*), c.422TC (p.Leu141Pro), c.835-2AG (exon 7 skipping) and c.835-3CA (exon 7 skipping). It should be noted here that some patients with milder phenotype carried only a single
Like
Comment
Share
