Mutational analysis of PHEX gene in X-linked hypophosphatemia.

Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome),...

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Bibliographic Details
Main Authors: Dixon, P, Christie, P, Wooding, C, Trump, D, Grieff, M, Holm, I, Gertner, J, Schmidtke, J, Shah, B, Shaw, N, Smith, C, Tau, C, Schlessinger, D, Whyte, M, Thakker, R
Format: Journal article
Language:English
Published: 1998