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),...
Main Authors: | , , , , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
1998
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