Characterization of additional vitamin D binding protein variants
Fu L, Borges CR, Rehder DS, Wong BY, Williams R, Carpenter TO, Cole DE. Characterization of additional vitamin D binding protein variants. The Journal Of Steroid Biochemistry And Molecular Biology 2016, 159: 54-59. PMID: 26924582, DOI: 10.1016/j.jsbmb.2016.02.022.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D 2Child, PreschoolGenetic Association StudiesHumansInfantPolymorphism, Single NucleotideSequence Analysis, DNAVitamin D-Binding ProteinConceptsMutant proteinsProtein variantsAdditional mutant proteinsSignificant genetic variationWild-type proteinExon/intron boundariesMolecular screeningEarlier biochemical studiesLow-frequency variantsGenomic DNA samplesS-cysteinylationGenetic variationGC mutationsMass spectrometric methodMass spectrometry methodIntron boundariesBinding proteinHigh-performance liquid chromatographyBiochemical studiesDisulfide bondsDisulfide speciesCodon 246Genetic variantsProteinSpecific mutations