Article
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.
Nature genetics - 1 Jun 2002
Schlingmann Karl P, Weber Stefanie, Peters Melanie, Niemann Nejsum Lene, Vitzthum Helga, Klingel Karin, Kratz Markus, Haddad Elie, Ristoff Ellinor, Dinour Dganit, Syrrou Maria, Nielsen Søren, Sassen Martin, Waldegger Siegfried, Seyberth Hannsjörg W, Konrad Martin
Abstract excerpt
Magnesium is an essential ion involved in many biochemical and physiological processes. Homeostasis of magnesium levels is tightly regulated and depends on the balance between intestinal absorption and renal excretion. However, little is known about specific proteins mediating transepithelial magnesium transport. Using a positional candidate gene approach, we identified mutations in TRPM6 (also known as CHAK2),...
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