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...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Thacher, Tom D., Fischer, Philip R., Singh, Ravinder J., Roizen, Jeffrey, Levine, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2015
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha: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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