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Research Article

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

  • Neil V. Morgan,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Mark R. Morris,

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Hakan Cangul,

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Department of Medical Genetics, Uludag University School of Medicine, Bursa, Turkey

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  • Diane Gleeson,

    Affiliation: The Wellcome Trust Sanger Institute, Cambridge, United Kingdom

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  • Anna Straatman-Iwanowska,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Nicholas Davies,

    Affiliation: School of Biosciences, University of Birmingham School of Medicine, Birmingham, United Kingdom

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  • Stephen Keenan,

    Affiliations: The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, European Bioinformatics Institute, Cambridge, United Kingdom

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  • Shanaz Pasha,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Fatimah Rahman,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Dean Gentle,

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • Maaike P. G. Vreeswijk,

    Affiliation: Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

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  • Peter Devilee,

    Affiliations: Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, Clinical Genetics and the Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands

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  • Margaret A. Knowles,

    Affiliation: Cancer Research UK Clinical Centre, Leeds Institute for Molecular Medicine, St James's University Hospital, Leeds, United Kingdom

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  • Serdar Ceylaner,

    Affiliation: Medical Genetics Intergen Genetics Centre, Ankara, Turkey

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  • Richard C. Trembath,

    Affiliation: Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, United Kingdom

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  • Carlos Dalence,

    Affiliation: Division of Paediatric Haematology/Oncology, St. Joseph Children's Hospital, Tampa, Florida, United States of America

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  • Erol Kismet,

    Affiliation: Department of Pediatric Oncology, Gulhane Military Medical Academy, Ankara, Turkey

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  • Vedat Köseoğlu,

    Affiliation: Department of Pediatric Oncology, Gulhane Military Medical Academy, Ankara, Turkey

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  • Hans-Christoph Rossbach,

    Affiliation: Division of Paediatric Haematology/Oncology, St. Joseph Children's Hospital, Tampa, Florida, United States of America

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  • Paul Gissen,

    Affiliation: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

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  • David Tannahill,

    Affiliations: The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, Cranfield Health, Cranfield University, Bedford, United Kingdom

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  • Eamonn R. Maher mail

    e.r.maher@bham.ac.uk

    Affiliations: Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom, West Midlands Region Genetics Service, Birmingham Women's Hospital, Edgbaston, United Kingdom

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  • Published: February 05, 2010
  • DOI: 10.1371/journal.pgen.1000833

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