Altered Vitamin D, Cyclic Nucleotide and Trace Mineral Metabolism in the X-Linked Hypophosphatemic Mouse
- 1 January 1980
- book chapter
- Published by Springer Nature
- Vol. 128, 351-359
- https://doi.org/10.1007/978-1-4615-9167-2_40
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.This publication has 13 references indexed in Scilit:
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