Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

@article{Ichikawa2006IntronicDI,
  title={Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.},
  author={Shoji Ichikawa and Andrea H. Sorenson and Erik A. Imel and Nancy E. Friedman and Joseph M. Gertner and Michael J. Econs},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2006},
  volume={91 10},
  pages={4022-7}
}
CONTEXT Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and rickets/osteomalacia with increased serum 1,25-dihydroxyvitamin D [1,25-(OH)(2)D] resulting in hypercalciuria. OBJECTIVE Our objective was to determine whether mutations in the SLC34A3 gene, which encodes sodium-phosphate cotransporter type IIc, are responsible for the occurrence of HHRH. DESIGN AND SETTING Mutation analysis of exons and adjacent introns… CONTINUE READING
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