Analysis of 24 genes reveals a monogenic cause in 11.1 % of cases with steroid resistant nephrotic syndrome at a single center

BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of end-stage renal disease (ESRD) among patients manifesting <25 years of age. We performed mutation analysis using a high-throughput PCR-based microfluidic technology in 24 single-gene causes of SRNS in a c...

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Vydáno v:Pediatr Nephrol
Hlavní autoři: Tan, Weizhen, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Schapiro, David, Airik, Merlin, Shril, Shirlee, Gee, Heon Yung, Baum, Michelle, Daouk, Ghaleb, Ferguson, Michael A., Rodig, Nancy, Somers, Michael JG., Stein, Deborah R., Vivante, Asaf, Warejko, Jillian K., Widmeier, Eugen, Hildebrandt, Friedhelm
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771840/
https://ncbi.nlm.nih.gov/pubmed/28921387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-017-3801-6
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