Genetics of Primary Hemophagocytic Lymphohistiocytosis
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-59815-9_7
Reference216 articles.
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3. Stepp SE, Dufourcq-Lagelouse R, Deist FL, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286(5446):1957–9.
4. Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, et al. The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. J Exp Med. 2004;200(6):811–6.
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