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Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
Ong, Royston W; AlSaman, Abdulaziz; Selcen, Duygu; Arabshahi, Arash; Yau, Kyle S; Ravenscroft, Gianina; Duff, Rachael M; Atkinson, Vanessa; Allcock, Richard J; Laing, Nigel G.
Afiliação
  • Ong RW; Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • AlSaman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.
  • Selcen D; Division of Child Neurology and Neuromuscular Disease Research Laboratory, Department of Neurology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Arabshahi A; Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Yau KS; Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Duff RM; Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Atkinson V; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Allcock RJ; Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia Department of Clinical Immunology, Royal Perth Hospital, Perth, Western Australia, Australia.
  • Laing NG; Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlan
J Neurol Neurosurg Psychiatry ; 85(9): 1058-60, 2014 Sep.
Article em En | MEDLINE | ID: mdl-24610938
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência de Bases / Deleção de Sequência / Miopatias da Nemalina / Cofilina 2 Limite: Adult / Female / Humans / Infant / Male Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência de Bases / Deleção de Sequência / Miopatias da Nemalina / Cofilina 2 Limite: Adult / Female / Humans / Infant / Male Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Austrália