Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3

Authors

  • Miriam Entesarian,

    1. Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
    2. Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Centre for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • Samuel C. C. Chiang,

    1. Centre for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
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  • Heinrich Schlums,

    1. Centre for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
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  • Marie Meeths,

    1. Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
    2. Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Centre for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • Mei-Yoke Chan,

    1. Haematology/Oncology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore
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  • Soe-Nwe Mya,

    1. Haematology/Oncology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore
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  • Shui-Yen Soh,

    1. Haematology/Oncology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore
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  • Magnus Nordenskjöld,

    1. Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Centre for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • Jan-Inge Henter,

    1. Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • Yenan T. Bryceson

    1. Centre for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
    2. Broegelmann Research Laboratory, The Gades Institute, University of Bergen, Bergen, Norway
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