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Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient

✍ Scribed by LIHUA CAO; FANG LIU; YU WANG; JIAN MA; SHUSEN WANG; LIBO WANG; YANG ZHANG; CHEN CHEN; YANG LUO; HONGWEI MA


Book ID
107586236
Publisher
Indian Academy of Sciences
Year
2011
Tongue
English
Weight
672 KB
Volume
90
Category
Article
ISSN
0022-1333

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Vitamin D-dependent rickets type II: ext
✍ L. J. Fraher; R. Karmali; F. R. J. Hinde; G. N. Hendy; H. Jani; L. Nicholson; D. 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 689 KB

Vitamin D-dependent rickets type II (VDDR II) is a rare syndrome resulting in severe rickets and is resistant to treatment with vitamin D and its derivatives. Patient with this disease, who are frequently the children of consanguinous marriages, present with elevated circulating concentrations of 1,