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Autor:
B. Robin, Eric Bieth, Peter Freisinger, M. Mouchard, H. P. Krohn, Mark E Nunes, J. F. Gibrat, Anne-Sophie Lia-Baldini, Arthur S. Aylsworth, F. Muller, Etienne Mornet, B. Simon-Bouy, J.L. Serre, S. Delanote, J. C.C. Hu, Agnès Taillandier
Publikováno v:
Human genetics. 109(1)
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity. The disease is highly variable in its clinical expression, because of various muta