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Items: 3

Select item 62647351.

Thrombocytopenia-associated mutations in Ser/Thr kinase MASTL deregulate actin cytoskeletal dynamics in platelets

Begoña Hurtado, Marianna Trakala, Pilar Ximénez-Embún, Aicha El Bakkali, David Partida, Belén Sanz-Castillo, Mónica Álvarez-Fernández, María Maroto, Ruth Sánchez-Martínez, Lola Martínez, Javier Muñoz, Pablo García de Frutos, Marcos Malumbres

J Clin Invest. 2018 Dec 3; 128(12): 5351–5367. Published online 2018 Oct 29. doi: 10.1172/JCI121876

PMCID:: PMC6264735

Abstract Article PDF–16M

Select item 30143572.

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol-Moix, Patrizia Noris, Giovanni Castegnaro, Alessandro Pecci, Chiara Gnan, Francesca Punzo, Caterina Marconi, Samuele Gherardi, Giuseppe Loffredo, Daniela De Rocco, Saverio Scianguetta, Serena Barozzi, Pamela Magini, Valeria Bozzi, Luca Dezzani, Mariateresa Di Stazio, Marcella Ferraro, Giovanni Perini, Marco Seri, Carlo L. Balduini

Am J Hum Genet. 2011 Jan 7; 88(1): 115–120. doi: 10.1016/j.ajhg.2010.12.006