Kramer, K.; Chavez, M. B.; Tran, A. T.; Farah, F.; Tan, M. H.; Kolli, T. N.; dos Santos, E. J. Lira; Wimer, Helen F.; Millan, J. L.; Suva, L. J.; Gaddy, D.; Foster, B. L.
(2021)
ALPL encodes tissue-nonspecific alkaline phosphatase (TNAP), an enzyme expressed in bone, teeth, liver, and kidney. ALPL loss-of-function mutations cause hypophosphatasia (HPP), an inborn error-of-metabolism that produces ...