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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

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作者: Pagel,J. [1] ; Beutel,K. [2] ; Lehmberg,K. [3] ; Koch,F. [4] ; Maul-Pavicic,A. [5] ; Rohlfs,A.-K. [6] ; Al-Jefri,A. [7] ; Beier,R. [8] ; Ousager,L.B. [9] ; Ehlert,K. [10] ; Gross-Wieltsch,U. [11] ; Jorch,N. [12] ; Kremens,B. [13] ; Pekrun,A. [14] ; Sparber-Sauer,M. [15] ; Mejstrikova,E. [16] ; Wawer,A. ; Ehl,S. ; ZurStadt,U. ; Janka,G.
作者单位: Department of Voice, Speech and Hearing Disorders, University Medical Center Hamburg Eppendorf [1] Centre of Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany [2] Section of Pediatric Stem Cell Transplantation, Department of Pediatric Hematology-Oncology, King [3] Department of Pediatrics, University of Ulm, Ulm, Germany [4] Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52 [5] Gilead Children's Hospital, Bielefeld, Germany [6] Research Institute Children's Cancer Center, Hamburg, Germany, University Medical Center Hamburg [7] University Children's Hospital Münster, Pediatric Hematology and Oncology, Albert-Schweitzer-Campus [8] Prof. Hess Children's Hospital, Bremen, Germany [9] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark [10] Research Institute Children's Cancer Center, Hamburg, Germany [11] Pediatric Hematology, Oncology and Immunology, Klinikum Stuttgart, Olga Hospital, Stuttgart, Germany [12] Department of Pediatric Hematology and Oncology, Teaching Hospital Motol and 2nd Medical School [13] Department of Pediatrics, Technical University Munich, Munich, Germany [14] Department of Pediatric Hematology and Oncology, Medical School Hannover, Hannover, Germany [15] Pediatric Hematology, Oncology, University of Essen, Essen, Germany [16]
发布时间 2013-11-20
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Blood: The Journal of the American Society of Hematology

Blood

2012年119卷25期

6016-6024页

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