Učitavanje...
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.
We have identified and characterized two mutations in the hormone binding domain of the vitamin D receptor (VDR) in patients with hereditary vitamin D-resistant rickets. One patient was found to have a premature stop mutation (CAG to TAG) in the hinge region affecting amino acid 149 (Q149X) and the...
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| Glavni autori: | , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1993
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC293517/ https://ncbi.nlm.nih.gov/pubmed/8392085 |
| Oznake: |
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