Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia

ConclusionThis novel CASR I554N mutation causing FHH attenuates CASR stability, its binding affinity with Ca2+, and the response to eCa2+ corrected by therapeutic calcimimetics.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research