Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
作者： Stefanie Weber , Anja K. Büscher , Henning Hagmann , Max C. Liebau , Christian Heberle
DOI: 10.1007/S00467-015-3167-6
关键词:
摘要: Background Steroid-resistant nephrotic syndrome (SRNS) is a severe cause of progressive renal disease. Genetic forms SRNS can present with autosomal recessive or 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 genes.
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