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

J. Pagel,K. Beutel,K. Lehmberg,F. Koch,A. Maul‐Pavicic,Anna-Katharina Rohlfs,A. Al‐Jefri,R. Beier,Lilian Bomme Ousager,K. Ehlert,U. Gross-Wieltsch,N. Jorch,B. Kremens,A. Pekrun,M. Sparber-Sauer,E. Mejstříková,A. Wawer,S. Ehl,U. Zur Stadt,G. Janka

Published 2012 in Blood

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