Article
Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system.
The Journal of clinical endocrinology and metabolism - 1 Feb 2015
Mugg Amy, Legeza Balazs, Tee Meng Kian, Damm Izabella, Long Roger K, Miller Walter L
Abstract excerpt
CONTEXT: Mutations of the CYP24A1 gene encoding the 24-hydroxylase (24OHase) that inactivates metabolites of vitamin D can cause hypercalcemia in infants and adults; in vitro assays of 24OHase activity have been difficult. OBJECTIVE: We sought an alternative assay to characterize a CYP24A1 mutati...
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