https://www.selleckchem.com/pr....oducts/hmpl-504-azd6
Subsequent screening of a cohort of patients with OCA (n = 85) and INS (n = 25) revealed two heterozygous truncating mutations, namely c.876C A (p.Tyr292*) and c.1407G A (p.Trp469*), in an independent patient with OCA. Taken together, our data suggest that mutations in DCT can cause a phenotypic spectrum ranging from isolated infantile nystagmus to oculocutaneous albinism. Emergency department (ED) visits after surgery represent a significant cost burden on the healthcare system. Furthermore, many ED visits
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