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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2014
Aiheet:
Linkit: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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