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Inactivating mutations in 25-hydroxyvitamin D3 1α-hydroxylase gene in pseudovitamin D-deficiency rickets patients


Book ID
110656068
Publisher
Springer-Verlag
Year
1998
Tongue
English
Weight
63 KB
Volume
65
Category
Article
ISSN
0019-5456

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In 1974, a 2-year-old boy was diagnosed as having X-linked hypophosphataemic rickets (XLH) because of severe rickets and hypophosphataemia. The vitamin D metabolite concentrations, blood and urine chemistry and renal 25-hydroxyvitamin D3 (25OHD3)-1 alpha-hydroxylase were measured in 1982 (about 2 we