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A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets

✍ Scribed by K. Arita; A. Nanda; V. Wessagowit; M. Akiyama; Q.A. Alsaleh; J.A. McGrath


Book ID
108669723
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
236 KB
Volume
0
Category
Article
ISSN
0007-0963

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Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). Patients exhibit severe rickets and hypocalcemia. Heterozygous parents and siblings appear normal and exhibit no symptoms of the disease. We analyzed the VDR gene

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