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CYP2R1 mutations causing vitamin D-deficiency rickets.
J Steroid Biochem Mol Biol. 2017 Oct;173:333-336. doi: 10.1016/j.jsbmb.2016.07.014. Epub 2016 Jul 27.
J Steroid Biochem Mol Biol. 2017.
PMID: 27473561
Review.
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).
Wiedemann A, Renard E, Molin A, Weryha G, Oussalah A, Guéant JL, Feillet F.
Wiedemann A, et al.
Calcif Tissue Int. 2020 Aug;107(2):191-194. doi: 10.1007/s00223-020-00704-4. Epub 2020 May 19.
Calcif Tissue Int. 2020.
PMID: 32430692
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