Article
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clinical journal of the American Society of Nephrology : CJASN - 6 Jan 2018
Warejko Jillian K, Tan Weizhen, Daga Ankana, Schapiro David, Lawson Jennifer A, Shril Shirlee, Lovric Svjetlana, Ashraf Shazia, Rao Jia, Hermle Tobias, Jobst-Schwan Tilman, Widmeier Eugen, Majmundar Amar J, Schneider Ronen, Gee Heon Yung, Schmidt J Magdalena, Vivante Asaf, van der Ven Amelie T, Ityel Hadas, Chen Jing, Sadowski Carolin E, Kohl Stefan, Pabst Werner L, Nakayama Makiko, Somers Michael J G, Rodig Nancy M, Daouk Ghaleb, Baum Michelle, Stein Deborah R, Ferguson Michael A, Traum Avram Z, Soliman Neveen A, Kari Jameela A, El Desoky Sherif, Fathy Hanan, Zenker Martin, Bakkaloglu Sevcan A, Müller Dominik, Noyan Aytul, Ozaltin Fatih, Cadnapaphornchai Melissa A, Hashmi Seema, Hopcian Jeffrey, Kopp Jeffrey B, Benador Nadine, Bockenhauer Detlef, Bogdanovic Radovan, Stajić Nataša, Chernin Gil, Ettenger Robert, Fehrenbach Henry, Kemper Markus, Munarriz Reyner Loza, Podracka Ludmila, Büscher Rainer, Serdaroglu Erkin, Tasic Velibor, Mane Shrikant, Lifton Richard P, Braun Daniela A, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome...
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