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Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.
Immunol Cell Biol. 2015 Jul;93(6):575-80. doi: 10.1038/icb.2015.1. Epub 2015 Mar 17.
Immunol Cell Biol. 2015.
PMID: 25776844
Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function.
Voskoboinik I, Sutton VR, Ciccone A, House CM, Chia J, Darcy PK, Yagita H, Trapani JA.
Voskoboinik I, et al.
Blood. 2007 Aug 15;110(4):1184-90. doi: 10.1182/blood-2007-02-072850. Epub 2007 May 2.
Blood. 2007.
PMID: 17475905
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