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MATR3 haploinsufficiency and early-onset neurodegeneration.
Zech, Michael; Seibt, Annette; Zumbaum, Barbara; Klee, Dirk; Meitinger, Thomas; Winkelmann, Juliane; Mayatepek, Ertan; Wagner, Matias; Distelmaier, Felix.
Afiliação
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Seibt A; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
  • Zumbaum B; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.
  • Klee D; Sozialpädiatrisches Zentrum, St. Marien-Hospital Düren gGmbH, 52353 Düren, Germany.
  • Meitinger T; Department of Pediatric Radiology, Medical Faculty, Institute of Radiology, Heinrich-Heine-University, 40225 Düsseldorf, Germany.
  • Winkelmann J; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
  • Mayatepek E; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Wagner M; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
  • Distelmaier F; Lehrstuhl für Neurogenetik, Technische Universität München, 81675 Munich, Germany.
Brain ; 144(9): e72, 2021 10 22.
Article em En | MEDLINE | ID: mdl-34173818
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Doenças Neurodegenerativas / Proteínas Associadas à Matriz Nuclear / Haploinsuficiência Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Doenças Neurodegenerativas / Proteínas Associadas à Matriz Nuclear / Haploinsuficiência Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article