EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

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  10. Fenneteau, O. 12
  11. Le Pointe, H.D. 1314
  12. Fumagalli, S. 415
  13. Beaupain, B. 16
  14. Nitschké, P. 4
  15. Bôle-Feysot, C. 4
  16. De Villartay, J.-P. 34
  17. Bellanné-Chantelot, C. 13
  18. Donadieu, J. 13
  19. Kannengiesser, C. 1718
  20. Warren, A.J. 122
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  1. 1 Cambridge Institute for Medical Research, Keith Peters Building
  2. 2 University of Cambridge
    info

    University of Cambridge

    Cambridge, Reino Unido

    ROR https://ror.org/013meh722

  3. 3 French Institute of Health and Medical Research
    info

    French Institute of Health and Medical Research

    París, Francia

    ROR https://ror.org/02vjkv261

  4. 4 Paris Descartes University
    info

    Paris Descartes University

    París, Francia

  5. 5 Medical Research Council Mammalian Genetics Unit
  6. 6 Hospital Universitario de Canarias
    info

    Hospital Universitario de Canarias

    San Cristóbal de La Laguna, España

    ROR https://ror.org/05qndj312

  7. 7 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

  8. 8 Centro Investigació n Biomé dica en Red Enfermedades Neurodegenerativas
  9. 9 Department of Hematology, CRNMR Aplasie Mé dullaire, Saint-Louis University Hospital, Assistance Publique-Hôpitaux de Paris
  10. 10 Department of Haematology, Centre Hospitalier Universitaire de Nancy
  11. 11 Department of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Lenval
  12. 12 Assistance Publique-Hôpitaux de Paris, Laboratory of Hematology, Robert Debré University Hospital
  13. 13 Assistance Publique -Hopitaux De Paris
    info

    Assistance Publique -Hopitaux De Paris

    París, Francia

    ROR https://ror.org/00pg5jh14

  14. 14 Department of Pediatric Imaging, Armand Trousseau Hospital, Sorbonne Université s, Pierre et Marie Curie-Paris University
  15. 15 Necker-Enfants Malades Hospital
    info

    Necker-Enfants Malades Hospital

    París, Francia

    ROR https://ror.org/05tr67282

  16. 16 French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital
  17. 17 Assistance Publique-Hôpitaux de Paris, Service de Gé né tique, Hôpital Bichat
  18. 18 Université Denis Diderot
    info

    Université Denis Diderot

    París, Francia

  19. 19 Imagine Institute for Genetic Diseases
    info

    Imagine Institute for Genetic Diseases

    París, Francia

    ROR https://ror.org/05rq3rb55

Journal:
Blood

ISSN: 1528-0020

Year of publication: 2019

Volume: 134

Issue: 3

Pages: 277-290

Type: Article

DOI: 10.1182/BLOOD.2018893404 PMID: 31151987 SCOPUS: 2-s2.0-85070118428 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus