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Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.
Helman, Guy; Taylor, Lauren E; Walkiewicz, Marzena; Le Moing, Maelle; Eggers, Stefanie; Yaplito-Lee, Joy; Fuller, Maria; Dabscheck, Gabriel; Rodriguez-Casero, Victoria; White, Susan M; Simons, Cas.
Afiliação
  • Helman G; Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
  • Taylor LE; Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Victoria, Australia.
  • Walkiewicz M; Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia.
  • Le Moing M; Victorian Clinical Genetics Services, The Royal Children's Hospital, Victoria, Australia.
  • Eggers S; Victorian Clinical Genetics Services, The Royal Children's Hospital, Victoria, Australia.
  • Yaplito-Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Fuller M; Genetics and Molecular Pathology, SA Pathology [at Women's and Children's Hospital], North Adelaide, South Australia, Australia; Adelaide Medical School, University of Adelaide, South Australia, Australia.
  • Dabscheck G; Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Victoria, Australia.
  • Rodriguez-Casero V; Department of Neurology, The Royal Children's Hospital, Victoria, Australia.
  • White SM; Victorian Clinical Genetics Services, The Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia. Electronic address: sue.white@vcgs.org.au.
  • Simons C; Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia. Electronic address: cas.simons@mcri.edu.au.
Eur J Med Genet ; 64(8): 104259, 2021 Aug.
Article em En | MEDLINE | ID: mdl-34126256
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / Dipeptidil Peptidases e Tripeptidil Peptidases / Serina Proteases / Aminopeptidases / Mutação / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies / Screening_studies Limite: Child / Female / Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália País de publicação: Holanda
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: Splicing de RNA / Dipeptidil Peptidases e Tripeptidil Peptidases / Serina Proteases / Aminopeptidases / Mutação / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies / Screening_studies Limite: Child / Female / Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália País de publicação: Holanda