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Correspondence
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Volume 359:2615-2617 December 11, 2008 Number 24
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NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone

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 by Karim, Z.
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To the Editor: Karim et al. (Sept. 11 issue)1 report on three nonsynonymous nucleotide changes in NHERF1 (also called SLC9A3R1) — at p.L110V, p.R153Q, and p.E225K — which were found in 4 of 92 unrelated patients with nephrolithiasis or osteopenia. The change at p.L110V was also found in one of the controls; however, this person had reduced renal phosphate reabsorption, measured by dividing tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), and the authors therefore suggest that this person was misclassified. The change at p.R153Q segregated with nephrolithiasis in two relatives of Patient 3, but like . . . [Full Text of this Article]




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