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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Year: 2011
Type: article
Study design: Observational Study
DOI: 10.1016/j.ajhg.2011.04.021
Authors: Rachael M. Duff, Valerie Tay, Peter Hackman, Gianina Ravenscroft, Catriona McLean, Paul Kennedy, Alina Steinbach, Wiebke Schöffler, Peter F.M. van der Ven, Dieter O. Fürst, Jaeguen Song, Kristina Djinović-Carugo, Sini Penttilä, Olayinka Raheem, Katrina Reardon, Alessandro Malandrini, Simona Gambelli, Marcello Villanova, Kristen J. Nowak, David R. Williams, John E. Landers, Robert H. Brown, Bjarne Udd, Nigel G. Laing
Institutions: The University of Western Australia, Harry Perkins Institute of Medical Research, St Vincent's Hospital Melbourne, University of Helsinki, The University of Melbourne, University of Bonn, University of Vienna, Max Perutz Labs, University of Ljubljana, Tampere University Hospital, University of Tampere, University of Siena, Casa di Cura Città di Roma, Monash University, University of Massachusetts Chan Medical School, Vaasa Central Hospital
Language: English
Open Access status: bronze
Funders: Folkhälsanin Tutkimussäätiö, Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, Austrian Science Fund, Sigrid Juséliuksen Säätiö, National Health and Medical Research Council
OpenAlex ID: W2055031663
FWCI: 3.408
Cites: 63
Cited by: 147
Related to: 10