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. |