A Novel Variant L263F in Human Inosine 5′-Monophosphate Dehydrogenase is Associated with Dimished Enzyme Activity

Genomics 17: 283-290, 2006 –

Inosine 50-monophosphate dehydrogenase 2 is required for purine synthesis in activated lymphocytes. Variants in the IMPDH2 gene may account for the large inter-individual variability in baseline enzyme activity, immunosuppressive efficacy and side effects in transplant recipients receiving mycophenolic acid. Therefore, the objective of this study was to identify and functionally characterize IMPDH2 variants.

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