Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

作者：Bernward G. Hinkes, Roger C. Wiggins, Rasheed Gbadegesin, Christopher N. Vlangos, Dominik Seelow, Gudrun Nürnberg, Puneet Kumar Garg, Rakesh Kumar Verma, Hassan Chaı̈b, Bethan E. Hoskins, Shazia Ashraf, Christian Becker, Hans Christian Hennies, Meera Goyal, Bryan L. Wharram, Asher Daniel Schachter, Sudha Puttur Mudumana, Iain A. S. Drummond, Dontscho Kerjaschki, Rüdiger Waldherr, Alexander M. Dietrich, Fatih Özaltın, Ayşı̇n Bakkaloğlu, Roxana Cleper, Lina Basel‐Vanagaite, Martin Pöhl, Martin Griebel, Alexey N. Tsygin, Alper Soylu, Dominik N Müller, Caroline S Sorli, Tom D. Bunney, Matilda Katan, Jinhong Liu, Massimo Attanasio, John F. O’Toole, K Hasselbacher, Bettina E. Mucha, Edgar A. Otto, Rannar Airik, Andreas Kispert, Grant G. Kelley, Alan V. Smrcka, Thomas W. Gudermann, Lawrence B. Holzman, Peter Nürnberg, Friedhelm Hildebrandt · 发表于：Nature Genetics · 年份：2006 · DOI：10.1038/ng1918 · 被引用次数：568 · 研究领域：Renal Diseases and Glomerulopathies、Genetic Syndromes and Imprinting、Tuberous Sclerosis Complex Research