Article
Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.
The Journal of clinical endocrinology and metabolism - 1 Sept 1997
Cockerill F J, Hawa N S, Yousaf N, Hewison M, O'Riordan J L, Farrow S M
Abstract excerpt
Hereditary vitamin D resistant rickets has been associated with a number of mutations within the DNA and ligand binding domains of vitamin D receptors (VDR). The aim of our study was to identify and characterize the causative mutations in three kindreds with this condition. Resistance of 1,25(OH)...
Topics
- Base Sequence
- Child, Preschool
- DNA
- Electrophoresis, Polyacrylamide Gel
- Humans
- Hypophosphatemia, Familial
- Infant
- Male
- Mutation
- Polymerase Chain Reaction
- Receptors, Calcitriol
- Transcription, Genetic
- Transcriptional Activation