Article
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
The Journal of clinical investigation - 1 Aug 2007
Groenestege Wouter M Tiel, Thébault Stéphanie, van der Wijst Jenny, van den Berg Dennis, Janssen Rob, Tejpar Sabine, van den Heuvel Lambertus P, van Cutsem Eric, Hoenderop Joost G, Knoers Nine V, Bindels René J
Abstract excerpt
Primary hypomagnesemia constitutes a rare heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg(2+)) wasting resulting in generally shared symptoms of Mg(2+) depletion, such as tetany and generalized convulsions, and often including associated disturbances in calcium excretion. However, most of the genes involved in the physiology of Mg(2+) handling are unknown. Through the discovery...
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