Abstract
Human X-linked hypophosphatemia is a genetic disease in which the mutant gene is dominant and sex-linked1. It is the most common form of vitamin D-resistant rickets1. The study of this disease has been aided by the discovery of the Hyp gene in mice2. This gene is also X-linked and dominant. Hyp mice have reduced tubular reabsorption of phosphate2, 3 which leads to hypophosphatemia and osteomalacic bone disease4. Their intestinal phosphate transport is resistant to 1,25-(OH)2-vitamin D therapy5.
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© 1980 Plenum Press, New York
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Meyer, R.A., Gray, R.W., Kiebzak, G.M., Mish, P.M. (1980). Altered Vitamin D, Cyclic Nucleotide and Trace Mineral Metabolism in the X-Linked Hypophosphatemic Mouse. In: Massry, S.G., Ritz, E., Jahn, H. (eds) Phosphate and Minerals in Health and Disease. Advances in Experimental Medicine and Biology, vol 128. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9167-2_40
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DOI: https://doi.org/10.1007/978-1-4615-9167-2_40
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