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  • Title: A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?
    Author: Santoro A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Aricò M.
    Journal: Haematologica; 2005 May; 90(5):697-8. PubMed ID: 15921391.
    Abstract:
    We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100 patients and 5/127 controls (OR, 3.4; 95%CI: 1.15-9.95; p=0.014). A91V is a novel and frequent predisposing factor for childhood ALL.
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