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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 in the DNA binding domain of the VDR gene and we have used the crystallographic structure of the glucocorticoid and...

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Source

Identifiers

PMID: 7828346
DOI: 10.1111/j.1365-2265.1994.tb01822.x

Genes

VDR
CAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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