title: Genetic expression of Wilson's disease in cell culture: a diagnostic marker.
abstract: Wilson's disease fibroblasts have an elevated intracellular copper concentration as compared to cultured control cells. A decreased ratio of copper to protein was observed in cytoplasmic protein (or proteins) having a molecular weight greater than or equal to 30,000 in Wilson's disease cells. The results of this culture study indicate its potential importance in the early unequivocal diagnosis of this disorder.
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002104:Cadmium / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D003300:Copper / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D012867:Skin / Q000378:metabolism
chemical_list: D002104:Cadmium; D003300:Copper