Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A
Author:
Affiliation:
1. Department of Pediatric Endocrinology; Akdeniz University School of Medicine; Antalya; Turkey
2. Department of Genetics; King Faisal Specialist Hospital & Research Centre; Riyadh; Saudi Arabia
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2012.04394.x/fullpdf
Reference33 articles.
1. Vitamin D deficiency;Holick;New England Journal of Medicine,2007
2. Genetics of vitamin D biosynthesis and its disorders;Miller;Best Practice & Research. Clinical Endocrinology & Metabolism,2001
3. CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis;Gupta;Journal of Clinical Endocrinology and Metabolism,2005
4. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase;Cheng;Proceedings of the National Academy of Sciences of the USA,2004
5. Minireview: regulation of steroidogenesis by electron transfer;Miller;Endocrinology,2005
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