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A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses

✍ Scribed by van der Eerden, Bram C.J.; van der Heyden, Josine C.; van Hamburg, Jan Piet; Schreuders-Koedam, Marijke; Asmawidjaja, Patrick S.; de Muinck Keizer-Schrama, Sabine M.; Boot, Annemieke M.; Lubberts, Erik; Drop, Stenvert L.S.; van Leeuwen, Johannes P.T.M.


Book ID
126822124
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
560 KB
Volume
69
Category
Article
ISSN
8756-3282

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Hereditary vitamin D–resistant rickets (
✍ Peter J Malloy; Yulin Zhou; Jining Wang; Olaf Hiort; David Feldman πŸ“‚ Article πŸ“… 2011 πŸ› American Society for Bone and Mineral Research 🌐 English βš– 408 KB

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