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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack, Tobias B; Staufner, Christian; Köpke, Marlies G; Straub, Beate K; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, Ivo; McKiernan, Patrick J; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Kühr, Joachim; Himbert, Urban; Taylor, Robert W; Distelmaier, Felix; Vockley, Jerry; Ghaloul-Gonzalez, Lina; Zschocke, Johannes; Kremer, Laura S; Graf, Elisabeth; Schwarzmayr, Thomas; Bader, Daniel M; Gagneur, Julien; Wieland, Thomas; Terrile, Caterina; Strom, Tim M; Meitinger, Thomas; Hoffmann, Georg F; Prokisch, Holger.
Afiliação
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Staufner C; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Köpke MG; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Straub BK; Institute of Pathology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Kölker S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Thiel C; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Freisinger P; Children's Hospital Reutlingen, 72764 Reutlingen, Germany.
  • Baric I; Department of Pediatrics, University Hospital Center Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.
  • McKiernan PJ; Liver Unit, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
  • Dikow N; Institute of Human Genetics, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Harting I; Department of Neuroradiology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Beisse F; Ophthalmology Department, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Burgard P; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Kotzaeridou U; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Kühr J; Children's Hospital Karlsruhe, 76133 Karlsruhe, Germany.
  • Himbert U; Children's Hospital St. Elisabeth, 56564 Neuwied, Germany.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.
  • Vockley J; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
  • Ghaloul-Gonzalez L; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
  • Zschocke J; Division of Human Genetics, Innsbruck Medical University, 6020 Innsbruck, Austria.
  • Kremer LS; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Bader DM; Computational Genomics, Gene Center, Ludwig Maximilians University, 81377 Munich, Germany.
  • Gagneur J; Computational Genomics, Gene Center, Ludwig Maximilians University, 81377 Munich, Germany.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Terrile C; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: prokisch@helmholtz-muenchen.de.
Am J Hum Genet ; 97(1): 163-9, 2015 Jul 02.
Article em En | MEDLINE | ID: mdl-26073778
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Falência Hepática Aguda / Proteínas de Neoplasias Limite: Humans / Infant País/Região como assunto: Europa Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Falência Hepática Aguda / Proteínas de Neoplasias Limite: Humans / Infant País/Região como assunto: Europa Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos