Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

André, Jean-Luc ; Lama, Giuliana ; Joseph, Mark ; Loirat, Chantal ; Illies, Friederike ; Bogdanovic, Radovan ; Milford, David V ; Saraiva, Jorge M ; Stein, Anja ; Takashima, Hiroshi ; Tizard, Jane ; Rosenbarker, Lisa ; Cockfield, Sandra ; Petty, Elizabeth M ; John, Joy ; Burguet, Antoine ; Schmidt, Beate ; Smith, Graham C ; Lupski, James R ; Weksberg, Rosanna ; Cordeiro, Isabel ; Yan, Jiong ; Fründ, Stefan ; Stankiewicz, Pawel ; McLeod, D. Ross ; Stockton, David W ; Rodrigo, Francisco ; Kaitila, Ilkka ; Spranger, Jürgen ; Thiele, Hannelore ; Boerkoel, Cornelius F

Nature genetics, 2002-02, Vol.30 (2), p.215-220 [Periódico revisado por pares]

London: Nature Publishing Group

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