Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. - Bai,M.; Janicic,N.; Trivedi,S.; Quinn,SJ.; Cole,DE.; Brown,EM.; Handy,GN. (J Clin Invest, 1997)