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A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
Vill, Katharina; Müller-Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas; Haack, Tobias B.
Afiliação
  • Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Müller-Felber W; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Teusch V; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Weigand H; Department of Radiology, University Medical Center Regensburg, Regensburg, Germany.
  • Blaschek A; Department of Pediatric Radiology, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Meitinger T; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Haack TB; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Mov Disord ; 32(5): 797-799, 2017 05.
Article em En | MEDLINE | ID: mdl-28150420
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Recombinante / Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Complexo 4 de Proteínas Adaptadoras Limite: Adolescent / Female / Humans Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Recombinante / Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Complexo 4 de Proteínas Adaptadoras Limite: Adolescent / Female / Humans Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha