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Comparative Study
. 2000 Nov;26(3):265-6.
doi: 10.1038/81543.

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

I C Meij  1 , J B Koenderink, H van Bokhoven, K F Assink, W T Groenestege, J J de Pont, R J Bindels, L A Monnens, L P van den Heuvel, N V Knoers
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Comparative Study

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

I C Meij et al. Nat Genet. 2000 Nov.

Abstract

Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg(2+) wasting, often associated with disturbances in Ca(2+) excretion. We identified a putative dominant-negative mutation in the gene encoding the Na(+), K(+)-ATPase gamma-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia.

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