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Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.
Green, Lydia; Berry, Ian R; Childs, Anne-Marie; McCullagh, Helen; Jose, Sandhya; Warren, Dan; Craven, Ian; Camm, Nick; Prescott, Katrina; van der Knaap, Marjo S; Sheridan, Eamonn; Livingston, John H.
Afiliação
  • Green L; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Berry IR; Leeds Genetics Laboratory, St. James's University Hospital, Leeds, United Kingdom.
  • Childs AM; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • McCullagh H; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Jose S; Hull Royal Infirmary, Hull, United Kingdom.
  • Warren D; Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Craven I; Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Camm N; Leeds Genetics Laboratory, St. James's University Hospital, Leeds, United Kingdom.
  • Prescott K; Department of Clinical Genetics, Leeds, United Kingdom.
  • van der Knaap MS; Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
  • Sheridan E; School of Medicine, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.
  • Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
Neuropediatrics ; 49(2): 118-122, 2018 04.
Article em En | MEDLINE | ID: mdl-29253910
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Deleção de Genes / Doença de Alexander / Proteína Glial Fibrilar Ácida Tipo de estudo: Observational_studies / Prognostic_studies Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Neuropediatrics Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Deleção de Genes / Doença de Alexander / Proteína Glial Fibrilar Ácida Tipo de estudo: Observational_studies / Prognostic_studies Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Neuropediatrics Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Alemanha