Genetic expression of Wilson's disease in cell culture: a diagnostic marker

Science  18 Apr 1980:
Vol. 208, Issue 4441, pp. 299-300
DOI: 10.1126/science.7367859


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.