Article
Loop disorders: insights derived from defined genotypes.
Nephron. Physiology - 1 Jan 2011
Jeck Nikola, Seyberth Hannsjörg W
Abstract excerpt
Great progress has been made in the last 15 years in the characterization and the pathophysiological understanding of renal salt and water wasting associated with inherited disorders of the thick ascending limb (TAL) of Henle's loop, the loop disorders. Besides careful clinical observations and innovative physiological concepts, molecular genetics have made this progress possible. So far, mutations in five...
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