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

著者: Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin, Christopher N. Vlangos, Dominik Seelow, Gudrun Nürnberg, Puneet Garg, Rakesh Verma, Hassan Chaı̈b, Bethan E. Hoskins, Shazia Ashraf, Christian Becker, Hans Christian Hennies, Meera Goyal, Bryan L. Wharram, Asher D. Schachter, Sudha Mudumana, Iain A. Drummond, Dontscho Kerjaschki, Rüdiger Waldherr, Alexander Dietrich, Fatih Özaltın, Ayşı̇n Bakkaloğlu, Roxana Cleper, Lina Basel‐Vanagaite, Martin Pöhl, Martin Griebel, А.Н. Цыгин, Alper Soylu, Dominik 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 Gudermann, Lawrence B. Holzman, Peter Nürnberg, Friedhelm Hildebrandt - Nature Genetics 2006 被引用: 564