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Structural And Functional Analysis Of Perforin Mutations In Association With Clinical Data Of Familial Hemophagocytic Lymphohistiocytosis Type 2 (Fhl2) Patients
(Wiley, 2013)
Perforin plays a key role in the immune system via pore formation at the target cell membrane in the elimination of virus-infected and transformed cells. A vast number of observed mutations in perforin impair this mechanism ...