A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

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...

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Main Authors: Pearce, S, Williamson, C, Kifor, O, Bai, M, Coulthard, MG, Davies, M, Lewis-Barned, N, McCredie, D, Powell, H, Kendall-Taylor, P, Brown, E, Thakker, R
格式: Journal article
語言:English
出版: 1996

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