Article
Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.
Clinical endocrinology - 1 Nov 1994
Rut A R, Hewison M, Kristjansson K, Luisi B, Hughes M R, O'Riordan J L
Abstract excerpt
OBJECTIVE: Hereditary vitamin D resistant rickets (HVDRR) has been shown to be due to mutations in the gene encoding the vitamin D receptor (VDR). In two patients with the characteristic phenotype we have investigated the functional defect and sequenced the VDR cDNA. We report two new mutations i...
Topics
- Amino Acid Sequence
- Base Sequence
- Calcitriol
- Child
- Computer Simulation
- DNA Primers
- DNA, Circular
- Drug Resistance
- Female
- Humans
- Hypophosphatemia, Familial
- Infant
- Male
- Models, Genetic
- Models, Molecular
- Molecular Conformation
- Molecular Sequence Data
- Mutation