Article
Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene.
Molecular and cellular endocrinology - 25 May 2001
Whitfield G K, Remus L S, Jurutka P W, Zitzer H, Oza A K, Dang H T, Haussler C A, Galligan M A, Thatcher M L, Encinas Dominguez C, Haussler M R
Abstract excerpt
The functional significance of two unlinked human vitamin D receptor (hVDR) gene polymorphisms was evaluated in twenty human fibroblast cell lines. Genotypes at both a Fok I restriction site (F/f) in exon II and a singlet (A) repeat in exon IX (L/S) were determined, and relative transcription activities of endogenous hVDR proteins were measured using a transfected, 1,25-dihydroxyvitamin D(3)-responsive reporter...
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