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Haematologica, Vol 90, Issue 5, 697-698
Copyright © 2005 by Ferrata Storti Foundation

Letter

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

A Santoro, S Cannella, A Trizzino, L Lo Nigro, G Corsello, and M Arico

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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