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Article

Genetic defects of the 1,25-dihydroxyvitamin D3 receptor.

Journal of receptor research - 1 Jan 1991

Hughes M R, Malloy P J, O'Malley B W, Pike J W, Feldman D

Abstract excerpt

Target organ resistance to steroid hormone action is known to produce clinical disorders ranging from testicular feminization in the case of androgen resistance to hypocalcemic vitamin D-resistant ricets (HVDRR) in the case of 1,25-dihydroxyvitamin D3. The etiologic basis of these disorders is thought to be genetic mutations in the gene encoding receptors for these hormones. We investigated this possibility by...

Topics

Amino Acid Sequence
Base Sequence
Calcitriol
DNA
Humans
Hypophosphatemia, Familial
Ligands
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Receptors, Calcitriol
Receptors, Steroid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transcription, Genetic

Source

Identifiers

PMID: 1653354
DOI: 10.3109/10799899109066437

Genes

VDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1653354-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Genetic defects of the 1,25-dihydroxyvitamin D3 receptor.PMID 1653354Read ↗

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