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1 n a subset of rats studied, the Nx group was hypocalciuric (1.4+/-0.5 mg/kg per d) compared with the
2 tigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), neonatal severe prim
3 e AP2sigma2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder o
4 and AP2o2, encoded by AP2S1, cause familial hypocalciuric hypercalcaemia types 1-3 (FHH1-3), respect
5 se of hypercalcemia in the child is familial hypocalciuric hypercalcemia (also termed familial benign
7 s with the hypercalcemic disorders, familial hypocalciuric hypercalcemia (FHH) and neonatal severe hy
8 inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperpar
9 of the nine unrelated patients with familial hypocalciuric hypercalcemia had a missense GNA11 mutatio
11 or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-d
12 lcium (Ca(2+) i) signaling, lead to familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal
13 tational analysis in a kindred with familial hypocalciuric hypercalcemia type 2 and in nine unrelated
15 mutants with loss of function cause familial hypocalciuric hypercalcemia type 2, and Galpha11 mutants
16 of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations
17 fs of CCV cargo proteins, result in familial hypocalciuric hypercalcemia type 3 (FHH3), an extracellu
18 and in nine unrelated patients with familial hypocalciuric hypercalcemia who did not have mutations i
19 al characteristics of patients with familial hypocalciuric hypercalcemia, an autosomal-dominant disea