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Article

Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.

The Journal of clinical endocrinology and metabolism - 1 Sept 1997

Cockerill F J, Hawa N S, Yousaf N, Hewison M, O'Riordan J L, Farrow S M

Abstract excerpt

Hereditary vitamin D resistant rickets has been associated with a number of mutations within the DNA and ligand binding domains of vitamin D receptors (VDR). The aim of our study was to identify and characterize the causative mutations in three kindreds with this condition. Resistance of 1,25(OH)2D3 was confirmed in cultured skin fibroblasts in which there was no induction of 24-hydroxylase activity; binding of...

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Source

Identifiers

PMID: 9284761
DOI: 10.1210/jcem.82.9.4243

Genes

VDR

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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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Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.PMID 9284761Read ↗

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