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Article

Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13–14

1 Dec 1992

Abstract excerpt

We have localized the locus for the vitamin D receptor (VDR) responsible for hypocalcemic vitamin D-resistant rickets (HVDRR), close to the pseudovitamin D-deficient rickets (PDDR) locus, another disorder related to impaired vitamin D metabolism. PDDR (formerly vitamin D dependency type I, VDD1) was recently mapped to human chromosome 12q14 by linkage analysis. Here we report on the assignment of VDR to 12q13-14...

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PMID: 1336301
DOI: 10.1002/jbmr.5650071212

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