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Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.
Vihola, A; Luque, H; Savarese, M; Penttilä, S; Lindfors, M; Leturcq, F; Eymard, B; Tasca, G; Brais, B; Conte, T; Charton, K; Richard, I; Udd, B.
Afiliação
  • Vihola A; Folkhälsan Institute of Genetics and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, 00014, Finland.
  • Luque H; Folkhälsan Institute of Genetics and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, 00014, Finland.
  • Savarese M; Folkhälsan Institute of Genetics and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, 00014, Finland.
  • Penttilä S; Neuromuscular Research Center, University and University Hospital of Tampere, Tampere, Finland.
  • Lindfors M; Neuromuscular Research Center, University and University Hospital of Tampere, Tampere, Finland.
  • Leturcq F; Laboratoire de génétique et biologie moléculaire, hôpital Cochin, AP-HP, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
  • Eymard B; Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Tasca G; Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.
  • Brais B; Montreal Neurological Institute, McGill University, Montreal, Canada.
  • Conte T; Montreal Neurological Institute, McGill University, Montreal, Canada.
  • Charton K; INSERM U951, INTEGRARE Research Unit and Généthon, Evry, France.
  • Richard I; INSERM U951, INTEGRARE Research Unit and Généthon, Evry, France.
  • Udd B; Folkhälsan Institute of Genetics and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, 00014, Finland.
Neuropathol Appl Neurobiol ; 44(5): 441-448, 2018 08.
Article em En | MEDLINE | ID: mdl-28489263
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Anoctaminas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Anoctaminas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article