Article
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
The New England journal of medicine - 10 Oct 1996
Pearce S H, Williamson C, Kifor O, Bai M, Coulthard M G, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown E M, Thakker R V
Abstract excerpt
BACKGROUND: The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular calcium concentrations, and mutations that result in a loss of function of the receptor are associated with familial hypocalciuric hypercalcemia. Mutations involving a gain of function have been associated with hypocalcemia in two kindreds. We examined the possibility that the latter...
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