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Human TGF-ß1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S; Konnikova, Liza; Hollizeck, Sebastian; Magg, Thomas; Lehle, Anna S; Walz, Christoph; Borggraefe, Ingo; Hauck, Fabian; Bufler, Philip; Conca, Raffaele; Wall, Sarah M; Schumacher, Eva M; Misceo, Doriana; Frengen, Eirik; Bentsen, Beint S; Uhlig, Holm H; Hopfner, Karl-Peter; Muise, Aleixo M; Snapper, Scott B; Strømme, Petter; Klein, Christoph.
Afiliação
  • Kotlarz D; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Marquardt B; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Barøy T; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Lee WS; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Konnikova L; Department of Pediatrics, University Malaya Medical Center, Kuala Lumpur, Malaysia.
  • Hollizeck S; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
  • Magg T; Harvard Medical School, Boston, MA, USA.
  • Lehle AS; Department of Pediatric and Newborn Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Walz C; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Borggraefe I; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Hauck F; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Bufler P; Institute of Pathology, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Conca R; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Wall SM; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Schumacher EM; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Misceo D; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, Germany.
  • Frengen E; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
  • Bentsen BS; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Uhlig HH; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Hopfner KP; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Muise AM; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Snapper SB; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Klein C; Department of Pediatric Research, Pediatric Liver Kidney Alimentary Nutrition and Transplantation Research Group, Oslo University Hospital, Oslo, Norway.
Nat Genet ; 50(3): 344-348, 2018 03.
Article em En | MEDLINE | ID: mdl-29483653

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Inflamatórias Intestinais / Fator de Crescimento Transformador beta1 Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Inflamatórias Intestinais / Fator de Crescimento Transformador beta1 Idioma: En Ano de publicação: 2018 Tipo de documento: Article