Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis
J. Clin. Invest. Khemissa Bejaoui, et al. 110:1301 doi:10.1172/JCI16450 [
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Figure 1Comparison of SPT-specific activity between HSN1 patients and healthy controls. SPT activity was determined in microsomes isolated from lymphoblastoid cell lines of HSN1 patients (HSN1) and age- and gender-matched healthy controls (Cont). Each assay was performed in triplicate, and data are presented as means with SD. Cell line ID numbers correspond to those listed in Table
1.