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Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.
Mordaunt, Dylan A; McIntyre, Liam C; Salvemini, Hayley; Ibrahim, Afdal; Bratkovic, Drago; Ketteridge, David; Scott, Hamish S; Kassahn, Karin S; Smith, Nicholas.
Afiliação
  • Mordaunt DA; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
  • McIntyre LC; Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.
  • Salvemini H; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
  • Ibrahim A; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
  • Bratkovic D; Department of Paediatrics, Lyell McEwin Health Service, Elizabeth Vale, Australia.
  • Ketteridge D; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
  • Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
  • Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
  • Smith N; Centre for Cancer Biology and ACRF South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
Am J Med Genet A ; 167A(11): 2697-701, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26289840
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA de Transferência de Leucina / Mitocôndrias / Mutação / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Ano de publicação: 2015 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: RNA de Transferência de Leucina / Mitocôndrias / Mutação / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Ano de publicação: 2015 Tipo de documento: Article