five

Additional file 5 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

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Figshare2023-07-21 更新2026-04-28 收录
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Additional file 5: Table S4. Enzyme activity of ARSA variants in a CDS construct. Summary of all data used to calculate mean CDS ARSA activity. Variants with negative mean percentage of wild-type activity exhibited lower levels of sulfatide catabolism than the plate blank. ARSA, arylsulfatase A; BCA, bicinchoninic acid; BLA, beta-lactamase; CDS, coding sequence; HGVSc, Human Genome Variation Society coding variant; HGVSp, Human Genome Variation Society protein variant; WT, wild-type.
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2023-07-21
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