Article
Characterization of additional vitamin D binding protein variants.
The Journal of steroid biochemistry and molecular biology - 1 May 2016
Fu Lei, Borges Chad R, Rehder Douglas S, Wong Betty Y L, Williams Rashida, Carpenter Thomas O, Cole David E C
Abstract excerpt
The gene (GC) for the vitamin D binding protein (DBP) shows significant genetic variation. Two missense variants, p.D432E and p.T436K, are common polymorphisms and both may influence vitamin D metabolism. However, less common variants, identified biochemically, have been reported previously. This study aimed to identify the underlying mutations by molecular screening and to characterize the mutant proteins by...
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