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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Sandaradura, Sarah A; Bournazos, Adam; Mallawaarachchi, Amali; Cummings, Beryl B; Waddell, Leigh B; Jones, Kristi J; Troedson, Christopher; Sudarsanam, Annapurna; Nash, Benjamin M; Peters, Gregory B; Algar, Elizabeth M; MacArthur, Daniel G; North, Kathryn N; Brammah, Susan; Charlton, Amanda; Laing, Nigel G; Wilson, Meredith J; Davis, Mark R; Cooper, Sandra T.
Afiliación
  • Sandaradura SA; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Bournazos A; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
  • Mallawaarachchi A; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Cummings BB; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Waddell LB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
  • Jones KJ; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Troedson C; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Sudarsanam A; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
  • Nash BM; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Peters GB; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
  • Algar EM; Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • MacArthur DG; Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • North KN; Sydney Genome Diagnostics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Brammah S; Sydney Genome Diagnostics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Charlton A; Centre for Cancer Research, Hudson Institute of Medical Research, Clayton, Victoria, Australia.
  • Laing NG; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.
  • Wilson MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
  • Davis MR; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Cooper ST; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Hum Mutat ; 39(3): 383-388, 2018 03.
Article en En | MEDLINE | ID: mdl-29266598
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Empalme del ARN / Miopatías Nemalínicas / Troponina T / Genes Recesivos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Empalme del ARN / Miopatías Nemalínicas / Troponina T / Genes Recesivos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia