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A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.
Al-Hashim, Aqeela; Gonorazky, Hernan D; Amburgey, Kimberly; Das, Soma; Dowling, James J.
Afiliação
  • Al-Hashim A; Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medic
  • Gonorazky HD; Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medic
  • Amburgey K; Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medic
  • Das S; Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medic
  • Dowling JJ; Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medic
Neurol Genet ; 3(5): e182, 2017 Oct.
Article em En | MEDLINE | ID: mdl-28852708
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article