Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-011-0070-1.pdf
Reference14 articles.
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2. Gribaa M., Younes M., Bouyacoub Y., Korbaa W., Ben Charfeddine I., Touzi M. et al. 2010 An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. J. Bone Miner. Metab. 28, 111–115.
3. Hasemann C. A., Kurumbail R. G., Boddupalli S. S., Peterson J. A. and Deisenhofer J. 1995 Structure and function of cytochromes P450: a comparative analysis of three crystal structures. Structure 3, 41–62.
4. Jones G., Strugnell S. A. and DeLuca H. F. 1998 Current understanding of the molecular actions of vitamin D. Physiol. Rev. 78, 1193–1231.
5. Kim C. J., Kaplan L. E., Perwad F., Huang N., Sharma A., Choi Y. et al. 2007 Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 92, 3177–3182.
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