Experimental Hematology
Volume 34, Issue 11 , Pages 1517-1521, November 2006

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

  • Melinda Erdős

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • Krisztina Alapi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • István Balogh

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • Clinical Biochemistry and Molecular Pathology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • György Oroszlán

      Affiliations

    • Department of Pediatrics, Markusovszky Lajos Hospital, Szombathely, Hungary
    • ,
  • Éva Rákóczi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • ,
  • János Sümegi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • Division of Hematology and Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
    • ,
  • László Maródi

      Affiliations

    • Departments of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    • Corresponding Author InformationOffprint requests to: László Maródi, M.D., Ph.D., Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Nagyerdei krt. 98., H-4012 Debrecen, Hungary

Received 16 February 2006; received in revised form 13 June 2006; accepted 13 June 2006.

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PII: S0301-472X(06)00397-3

doi:10.1016/j.exphem.2006.06.009

Experimental Hematology
Volume 34, Issue 11 , Pages 1517-1521, November 2006

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