CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency - Thacher, Tom D.; Fischer, Philip R.; Singh, Ravinder J.; Roizen, Jeffrey; Levine, Michael A. (The journal of clinical endocrinology and metabolism, 2015)
Keywords: 25-Hydroxyvitamin D; Adolescent; Adult; Base Sequence; Child; Child, Preschool; Cholestanetriol 26-Monooxygenase - genetics; Cohort Studies; Cytochrome P450 Family 2; Family; Homeostasis; Humans; Hydroxylase; Hydroxylation; Infant; JCEM Online: Advances in Genetics; Middle Aged; Missense mutation; Mutants; Mutation; Mutation, Missense; Nigeria - epidemiology; Oral administration; Pedigree; Polymorphism, Single Nucleotide; Rickets; Rickets - epidemiology; Rickets - genetics; Vitamin D; Vitamin D - analogs & derivatives; Vitamin D - biosynthesis; Vitamin D Deficiency - epidemiology; Vitamin D Deficiency - genetics; Vitamin deficiency; Young Adult