| Literature DB >> 11062458 |
I C Meij1, 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.
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.Entities:
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Year: 2000 PMID： 11062458 DOI： 10.1038/81543
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330