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

✍ Scribed by Pagel, J.; Beutel, K.; Lehmberg, K.; Koch, F.; Maul-Pavicic, A.; Rohlfs, A.-K.; 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.

• Book ID: 118254122
• Publisher: American Society of Hematology
• Year: 2012
• Tongue: English
• Weight: 324 KB
• Volume: 119
• Category: Article
• ISSN: 0006-4971
• DOI: 10.1182/blood-2011-12-398958