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CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency
CONTEXT: Production of the active vitamin D hormone 1,25-dihydroxyvitamin D requires hepatic 25-hydroxylation of vitamin D. The CYP2R1 gene encodes the principal vitamin D 25-hydroxylase in humans. OBJECTIVE: This study aimed to determine the prevalence of CYP2R1 mutations in Nigerian children with...
Gorde:
| Argitaratua izan da: | J Clin Endocrinol Metab |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Endocrine Society
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4490307/ https://ncbi.nlm.nih.gov/pubmed/25942481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1746 |
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