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Article Summary

Click the title below to leave the MDLinx Network and go to the Journal's Website

A Missense Mutation in the Sodium Phosphate Co-transporter Slc34a1 Impairs Phosphate Homeostasis
Journal of the American Society of Nephrology, 06/12/08

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Iwaki T et al. - Results suggest that a single amino acid substitution in Npt2a can lead to improper translocation of the protein to the cell membrane, disturbance of phosphate homeostasis, and renal calcification. Whether point mutations in the SLC34A1 gene can lead to hypophosphatemia and nephrolithiasis in humans remains unknown.

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