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Article

A Unique Point Mutation in the Human Vitamin D Receptor Chromosomal Gene Confers Hereditary Resistance to 1,25-Dihydroxyvitamin D3

1 Apr 1990

Abstract excerpt

The syndrome of hereditary resistance to 1,25-dihydroxyvitamin D3 is due to defective function of the vitamin D receptor (VDR). The recent cloning and nucleotide sequence determination of the human VDR chromosomal gene have enabled a direct evaluation of the genetic basis for this disease in affected patients. In this report we employed polymerase chain reaction techniques to amplify the gene exons that encode...

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Identifiers

PMID: 2177843
DOI: 10.1210/mend-4-4-623

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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A Unique Point Mutation in the Human Vitamin D Receptor Chromosomal Gene Confers Hereditary Resistance to 1,25-Dihydroxyvitamin D3PMID 2177843Read ↗

Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.Semantic proximity Read ↗

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Vitamin D receptors from patients with resistance to 1,25- dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partnerSemantic proximity Read ↗

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