Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequen...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Ebarasi, Lwaki, Ashraf, Shazia, Bierzynska, Agnieszka, Gee, Heon Yung, McCarthy, Hugh J., Lovric, Svjetlana, Sadowski, Carolin E., Pabst, Werner, Vega-Warner, Virginia, Fang, Humphrey, Koziell, Ania, Simpson, Michael A., Dursun, Ismail, Serdaroglu, Erkin, Levy, Shawn, Saleem, Moin A., Hildebrandt, Friedhelm, Majumdar, Arindam
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4289689/
https://ncbi.nlm.nih.gov/pubmed/25557779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.11.014
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