A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia

Steven A. Lietman, Yardena Tenenbaum-Rakover, Shing Jap Tjin, Yi Chi Wu, De Ming Yang, Changlin Ding, Najat Kussiny, Michael A. Levine

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