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HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting
Journal of the American Society of Nephrology, 04/28/09
Adalat S et al. - The results extend the phenotype of HNF1B mutations to include hypomagnesemia. HNF1B regulates transcription of FXYD2, which participates in the tubular handling of Mg2+, thus describing a role for HNF1B not only in nephrogenesis but also in the maintenance of tubular function.
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