Article
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2016
Weber Stefanie, Büscher Anja K, Hagmann Henning, Liebau Max C, Heberle Christian, Ludwig Michael, Rath Sabine, Alberer Martin, Beissert Antje, Zenker Martin, Hoyer Peter F, Konrad Martin, Klein Hanns-Georg, Hoefele Julia
Abstract excerpt
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a severe cause of progressive renal disease. Genetic forms of SRNS can present with autosomal recessive or autosomal dominant inheritance. Recent studies have identified mutations in multiple podocyte genes responsible for SRNS. Improved sequencing methods (next-generation sequencing, NGS) now promise rapid mutational testing of SRNS genes. METHODS: In...
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