A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000505:Alopecia / Q000209:etiology; D002117:Calcitriol; D002467:Cell Nucleus / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D004100:Dihydroxycholecalciferols / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D006887:Hydroxycholecalciferols / Q000378:metabolism*; D007015:Hypophosphatemia, Familial / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D007223:Infant; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000378:metabolism
D004100:Dihydroxycholecalciferols; D006887:Hydroxycholecalciferols; D002117:Calcitriol