Article
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Journal of the American Society of Nephrology : JASN - 1 Sept 2001
Weber Stefanie, Schneider Linda, Peters Melanie, Misselwitz Joachim, Rönnefarth Gabriele, Böswald Michael, Bonzel Klaus E, Seeman Tomas, Suláková Tereza, Kuwertz-Bröking Eberhard, Gregoric Alojz, Palcoux Jean-Bernard, Tasic Velibor, Manz Friedrich, Schärer Karl, Seyberth Hannsjörg W, Konrad Martin
Abstract excerpt
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder that is frequently associated with progressive renal failure. The primary defect is related to impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop. Mutations in PCLN-1, which encodes the renal tight junction protein paracellin-1 (claudin-16), were...
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