摘要:
A novel mutant form of lrp5 and lrp6 genes, the mutant LRP5 and LRP6 receptor proteins expressed therefrom, and a cell line which expresses the mutant LRP5 and/or LRP6 receptor proteins. Methods of diagnosing, prognosing and treating LRP5related diseases, specifically hyperparathyroidism and parathyroid tumors, and kits suitable for rapid on-site testing. Finally, methods of screening for agents capable of modulating the mutant LRP5 or LRP6 receptor proteins and pharmaceutical compositions comprising the selected agents.