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

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

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 Jr.; Bjarne Udd; Nigel G. Laing
  • 作者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 Jr.; Bjarne Udd; Nigel G. Laing
  • 卷第88卷
  • 期第6期
  • 印刷ISSN0002-9297
  • 电子ISSN1537-6605
  • 文件大小1150.16KB
  • 发表时间2011
  • DOI10.1016/j.ajhg.2011.04.021
  • 页码729-740
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