Genetic disorders and defects in vitamin D action

Endocrinology and Metabolism Clinics of North America

Volumn 39, Issue 2, 2010, Pages 333-346

  Malloy, Peter J ^a   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

1 Hydroxylase deficiency; Alopecia; Hereditary vitamin D resistant rickets; Mutations; Rickets; Vitamin D receptor

Indexed keywords

25 HYDROXYVITAMIN D; ALFACALCIDOL; ALKALINE PHOSPHATASE; CALCIDIOL 1 MONOOXYGENASE; CALCIFEDIOL; CALCITRIOL; CALCIUM; CYTOCHROME P450; CYTOCHROME P450 27B1; OXYGENASE; PARATHYROID HORMONE; PHOSPHATE; PROTEIN HR; REPRESSOR PROTEIN; RETINOID X RECEPTOR ALPHA; UNCLASSIFIED DRUG; VITAMIN D; VITAMIN D RECEPTOR;

ALKALINE PHOSPHATASE BLOOD LEVEL; ALOPECIA; AUTOSOMAL RECESSIVE DISORDER; CALCIUM ABSORPTION; CLINICAL FEATURE; DIMERIZATION; DISEASE MODEL; DNA BINDING; ENZYME DEFECT; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE TARGETING; GENETIC DISORDER; HAIR GROWTH; HETERODIMERIZATION; HETEROZYGOTE; HETEROZYGOUS MUTATION; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; KERATINOCYTE; LIGAND BINDING; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; REVIEW; RICKETS; SECONDARY HYPERPARATHYROIDISM; SPLICE SITE MUTATION; VITAMIN D DEPENDENT RICKETS TYPE 1; VITAMIN D DEPENDENT RICKETS TYPE 2;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ALOPECIA; ANIMALS; CALCITRIOL; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPERPARATHYROIDISM, SECONDARY; HYPOCALCEMIA; INFANT; INFANT, NEWBORN; MALE; MICE; RECEPTORS, CALCITRIOL; RICKETS;

EID: 77953951034     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ecl.2010.02.004     Document Type: Review

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