CYP2R1 mutations impair generation of 25-hydroxyvitamin D and cause an atypical form of vitamin D deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 7, 2015, Pages E1005-E1013

  Thacher, Tom D ^a,b   Fischer, Philip R ^b   Singh, Ravinder J ^b   Roizen, Jeffrey ^c   Levine, Michael A ^c  

^a UNIVERSITY OF JOS   (Nigeria)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; 25-HYDROXYVITAMIN D; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP2R1 PROTEIN, HUMAN; VITAMIN D;

ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; CYP2R1 GENE; ENZYME ACTIVITY; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HOMEOSTASIS; HOMOZYGOTE; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; NIGERIA; PRIORITY JOURNAL; RICKETS; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN BLOOD LEVEL; VITAMIN D DEFICIENCY; ADOLESCENT; ADULT; ANALOGS AND DERIVATIVES; BIOSYNTHESIS; FAMILY; GENETICS; INFANT; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHOLESTANETRIOL 26-MONOOXYGENASE; COHORT STUDIES; FAMILY; HUMANS; INFANT; MIDDLE AGED; MUTATION, MISSENSE; NIGERIA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RICKETS; VITAMIN D; VITAMIN D DEFICIENCY; YOUNG ADULT;

EID: 84953888752     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1746     Document Type: Article

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