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Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy
Authors:A. Vihola  H. Luque  M. Savarese  S. Penttilä  M. Lindfors  F. Leturcq  B. Eymard  G. Tasca  B. Brais  T. Conte  K. Charton  I. Richard  B. Udd
Affiliation:1. Folkh?lsan Institute of Genetics and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland;2. Neuromuscular Research Center, University and University Hospital of Tampere, Tampere, Finland;3. Laboratoire de génétique et biologie moléculaire, h?pital Cochin, AP‐HP, Université Paris Descartes‐Sorbonne Paris Cité, Paris, France;4. Institute of Myology, Pitié‐Salpêtrière Hospital, Paris, France;5. Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli”, Rome, Italy;6. Montreal Neurological Institute, McGill University, Montreal, Canada;7. INSERM U951, INTEGRARE Research Unit and Généthon, Evry, France;8. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland
Abstract:
Keywords:ANO5  DMM3  LGMD2L  limb‐girdle muscular dystrophy
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