Vitamin D-dependent rickets
Definition:
References:
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[1]. Jeffrey B Cheng, et al. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A. 2004 May 18;101(20):7711-5. [Content Brief]
[2]. Jeffrey D Roizen, et al. CYP3A4 mutation causes vitamin D-dependent rickets type 3. J Clin Invest. 2018 May 1;128(5):1913-1918. [Content Brief]
[3]. K Arita, et al. A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. Br J Dermatol. 2008 Jan;158(1):168-71. [Content Brief]
[4]. Keiko Yamamoto, et al. Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. J Biol Chem. 2005 Aug 26;280(34):30511-6. [Content Brief]
[5]. Peter J Malloy, et al. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am. 2010 Jun;39(2):333-46, table of contents. [Content Brief]
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