Article
NHERF1 mutations and responsiveness of renal parathyroid hormone.
The New England journal of medicine - 11 Sept 2008
Karim Zoubida, Gérard Bénédicte, Bakouh Naziha, Alili Rohia, Leroy Christine, Beck Laurent, Silve Caroline, Planelles Gabrielle, Urena-Torres Pablo, Grandchamp Bernard, Friedlander Gérard, Prié Dominique
Abstract excerpt
Impaired renal phosphate reabsorption, as measured by dividing the tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), increases the risks of nephrolithiasis and bone demineralization. Data from animal models suggest that sodium-hydrogen exchanger regulatory factor 1 (NHERF1) controls renal phosphate transport. We sequenced the NHERF1 gene in 158 patients, 94 of whom had either...
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