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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, Al-Jefri A, Beier R, Bomme Ousager L, Ehlert K, Gross-Wieltsch U, Jorch N, Kremens B, Pekrun A, Sparber-Sauer M, Mejstrikova E, Wawer A, Ehl S, zur Stadt U, Janka G. Pagel J, et al. Among authors: beutel k. Blood. 2012 Jun 21;119(25):6016-24. doi: 10.1182/blood-2011-12-398958. Epub 2012 Mar 26. Blood. 2012. PMID: 22451424 Free article.
Response to DDAVP in children with von Willebrand disease type 2.
Schneppenheim R, Budde U, Beutel K, Hassenpflug WA, Hauch H, Obser T, Oyen F, Schneppenheim S, Schrum J. Schneppenheim R, et al. Among authors: beutel k. Hamostaseologie. 2009 May;29(2):143-8. Hamostaseologie. 2009. PMID: 19404524
61 results