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  • Human PRF1 wild-type allele is located in the vicinity of 10q22 and is approximately 5 kb in length. This allele, which encodes perforin-1 protein, plays a role in lymphocyte-mediated cytolysis. Mutation of the gene is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.
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