Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3
Fadil M. Hannan, Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes, Michelle E. Stewart, Kreepa G. Kooblall, Caroline M. Gorvin, Gemma F. Codner, Lydia Teboul, Sara E. Wells, Rajesh V. Thakker
This study creates a mouse model with an AP2S1 mutation causing FHH3, showing hypercalcemia and demonstrating cinacalcet's effect on calcium levels.
bioRxiv · Aug 10, 2020 · PreprintGenetics