Article
Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Feb 2012
Guran Tulay, Akcay Teoman, Bereket Abdullah, Atay Zeynep, Turan Serap, Haisch Lea, Konrad Martin, Schlingmann Karl P
Abstract excerpt
BACKGROUND: Recent identification and characterization of novel renal Mg(2+) transporters and ion channels have greatly increased our understanding of the normal physiology of renal magnesium handling. METHODS: The present study deals with the clinical and molecular characterization of eight Turkish children (median age 10.6 years, range 3-16.2 years, five boys and three girls) with primary hypomagnesaemia from...
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