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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes. We comb...

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Bibliografische gegevens
Hoofdauteurs: Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W., Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B., Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A., Natarajan, Sivakumar, Wiggins, Roger C., Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S., Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A., Fathy, Hanan M., Goebel, Heike, Hoefele, Julia, Weber, Lutz T., Innis, Jeffrey W., Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A., Hildebrandt, Friedhelm
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2013
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3726174/
https://ncbi.nlm.nih.gov/pubmed/23867502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI69134
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