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

+ See all authors and affiliations

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.

Related Content