Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been de...

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Autori principali: Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S., Bakkaloglu, Sevcan A., Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, Hildebrandt, Friedhelm
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121470/
https://ncbi.nlm.nih.gov/pubmed/24814193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.04.010
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