New England Journal of Medicine · 2019 · 72 citations · 14 references
MedicineGeneticsMolecular GeneticsBone MetabolismHuman GeneticsMedical GeneticsAnkylosing SpondylitisBone DisordersBone Metabolism DisordersMetabolic Bone DiseaseVitamin DVitamin D DeficiencyChromosomal Microarray AnalysisGenetic Disorders Of Vitamin MetabolismHomozygous DeletionLiquid Chromatography-mass SpectrometryMicroarray AnalysisTandem Mass SpectrometryVitamin D Binding ProteinVitamin D Insufficiency
) gene that encodes the protein. Congenital absence of vitamin D-binding protein resulted in normocalcemia and a relatively mild disruption of bone metabolism, in this case complicated by severe autoimmune disease. (Funded by the National Institutes of Health and the University of Washington.).
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text