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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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Report
Acesso em linha: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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