Article
The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.
The Journal of clinical investigation - 1 Dec 1990
Malloy P J, Hochberg Z, Tiosano D, Pike J W, Hughes M R, Feldman D
Abstract excerpt
Hereditary 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] resistant rickets (HVDRR) is an autosomal recessive disease caused by target organ resistance to the action of 1,25(OH)2D3, the active form of the hormone. The defect in target cells is heterogenous and commonly appears to be a mutation in the gen...
Topics
- Blotting, Northern
- Blotting, Western
- Calcitriol
- Consanguinity
- Humans
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA, Messenger
- Receptors, Calcitriol
- Receptors, Steroid
- Restriction Mapping
- Rickets