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

First Author  Meij IC Year  2000
Journal  Nat Genet Volume  26
Issue  3 Pages  265-6
PubMed ID  11062458 Mgi Jnum  J:65517
Mgi Id  MGI:1926688 Doi  10.1038/81543
Citation  Meij IC, et al. (2000) Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit. Nat Genet 26(3):265-6
abstractText  Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg2+ wasting, often associated with disturbances in Ca2+ 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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