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Material Type: Artigo
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingRice, Gillian I ; Del Toro Duany, Yoandris ; Jenkinson, Emma M ; Forte, Gabriella Ma ; Anderson, Beverley H ; Ariaudo, Giada ; Bader-Meunier, Brigitte ; Baildam, Eileen M ; Battini, Roberta ; Beresford, Michael W ; Casarano, Manuela ; Chouchane, Mondher ; Cimaz, Rolando ; Collins, Abigail E ; Cordeiro, Nuno Jv ; Dale, Russell C ; Davidson, Joyce E ; De Waele, Liesbeth ; Desguerre, Isabelle ; Faivre, Laurence ; Fazzi, Elisa ; Isidor, Bertrand ; Lagae, Lieven ; Latchman, Andrew R ; Lebon, Pierre ; Li, Chumei ; Livingston, John H ; Lourenço, Charles M ; Mancardi, Maria Margherita ; Masurel-Paulet, Alice ; McInnes, Iain B ; Menezes, Manoj P ; Mignot, Cyril ; O'Sullivan, James ; Orcesi, Simona ; Picco, Paolo P ; Riva, Enrica ; Robinson, Robert A ; Rodriguez, Diana ; Salvatici, Elisabetta ; Scott, Christiaan ; Szybowska, Marta ; Tolmie, John L ; Vanderver, Adeline ; Vanhulle, Catherine ; Vieira, Jose Pedro ; Webb, Kate ; Whitney, Robyn N ; Williams, Simon G ; Wolfe, Lynne A ; Zuberi, Sameer M ; Hur, Sun ; Crow, Yanick JNature genetics, 2014-05, Vol.46 (5), p.503-509 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaAndré, 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 FNature genetics, 2002-02, Vol.30 (2), p.215-220 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |