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DailyMed describes the acetate form as C 221 H 366 N 72 O 67 S xC 2 H 4 O 2 (x 7) and states the molecular weight as 5,135.9 Da as the free-base equivalent
Using structure-based analyses and cell models, including patient fibroblasts, of this variant, we found that the missense variant destabilized a critical loop, which disrupted the active site and caused a substantial loss of enzymatic function
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