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  • Molecular assay reagents intended to identify mutations in the perforin 1 (pore forming protein) (PRF1) gene, located at chromosome 10q22, which encodes for a protein that can create transmembrane tubules and is a component of cytolytic granules that can cause apoptosis in a variety of target cells. This protein is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytotoxicity. This genetic mutation has been identified in patients with familial hemophagocytic lymphohistiocytosis type 2.
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