Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
| Autor: | Pagel, Julia *, Beutel, Karin *, Lehmberg, Kai, Koch, Florian, Maul-Pavicic, Andrea, Rohlfs, Anna-Katharina, Al-Jefri, Abdullah, Beier, Rita, Bomme Ousager, Lilian, Ehlert, Karoline, Gross-Wieltsch, Ute, Jorch, Norbert, Kremens, Bernhard, Pekrun, Arnulf, Sparber-Sauer, Monika, Mejstrikova, Ester, Wawer, Angela, Ehl, Stephan, zur Stadt, Udo, Janka, Gritta |
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| Zdroj: | In Blood 21 June 2012 119(25):6016-6024 |
| Databáze: | ScienceDirect |
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