Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses ofPRF1, UNC13D, STX11, andRAB27A

Human Mutation - Tập 27 Số 1 - Trang 62-68 - 2006
Fang Zhao1, Karin Beutel1, Susanne Kolberg2, Reinhard Schneppenheim1, H. Kabisch1, Gritta Janka1, Hans Christian Hennies2,3
1Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
2Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, Köln, Germany
3Gene Mapping Center and Department of Molecular Genetics, Max Delbrück Center for Molecular Medicine, Berlin, Germany

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