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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan, Shengjiang; Kermasson, Laëtitia; Hoslin, Angela; Jaako, Pekka; Faille, Alexandre; Acevedo-Arozena, Abraham; Lengline, Etienne; Ranta, Dana; Poirée, Maryline; Fenneteau, Odile; Ducou le Pointe, Hubert; Fumagalli, Stefano; Beaupain, Blandine; Nitschké, Patrick; Bôle-Feysot, Christine; de Villartay, Jean-Pierre; Bellanné-Chantelot, Christine; Donadieu, Jean; Kannengiesser, Caroline; Warren, Alan J; Revy, Patrick.
Affiliation
  • Tan S; Cambridge Institute for Medical Research, Cambridge, United Kingdom.
  • Kermasson L; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Hoslin A; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.
  • Jaako P; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.
  • Faille A; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Acevedo-Arozena A; Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom.
  • Lengline E; Cambridge Institute for Medical Research, Cambridge, United Kingdom.
  • Ranta D; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Poirée M; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.
  • Fenneteau O; Cambridge Institute for Medical Research, Cambridge, United Kingdom.
  • Ducou le Pointe H; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Fumagalli S; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.
  • Beaupain B; Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom.
  • Nitschké P; Unidad de Investigación, Hospital Universitario de Canarias, La Laguna, Spain.
  • Bôle-Feysot C; Instituto de Tecnologías Biomédicas, Universidad de La Laguna, La Laguna, Spain.
  • de Villartay JP; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, La Laguna, Spain.
  • Bellanné-Chantelot C; Department of Hematology, CRNMR Aplasie Médullaire, Saint-Louis University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Donadieu J; Department of Haematology, Centre Hospitalier Universitaire de Nancy, Nancy, France.
  • Kannengiesser C; Department of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Lenval, Nice, France.
  • Warren AJ; Assistance Publique-Hôpitaux de Paris, Laboratory of Hematology, Robert Debré University Hospital, Paris, France.
  • Revy P; Radiology Department, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Blood ; 134(3): 277-290, 2019 07 18.
Article in En | MEDLINE | ID: mdl-31151987
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Full text: 1 Database: MEDLINE Main subject: Peptide Elongation Factors / Peptide Initiation Factors / Ribonucleoprotein, U5 Small Nuclear / Shwachman-Diamond Syndrome / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Animals / Female / Humans / Infant / Male Language: En Year: 2019 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Peptide Elongation Factors / Peptide Initiation Factors / Ribonucleoprotein, U5 Small Nuclear / Shwachman-Diamond Syndrome / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Animals / Female / Humans / Infant / Male Language: En Year: 2019 Type: Article