Article
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
Haematologica - 1 Jul 2013
Navrkalova Veronika, Sebejova Ludmila, Zemanova Jana, Kminkova Jana, Kubesova Blanka, Malcikova Jitka, Mraz Marek, Smardova Jana, Pavlova Sarka, Doubek Michael, Brychtova Yvona, Potesil David, Nemethova Veronika, Mayer Jiri, Pospisilova Sarka, Trbusek Martin
Abstract excerpt
ATM abnormalities are frequent in chronic lymphocytic leukemia and represent an important prognostic factor. Sole 11q deletion does not result in ATM inactivation by contrast to biallelic defects involving mutations. Therefore, the analysis of ATM mutations and their functional impact is crucial. In this study, we analyzed ATM mutations in predominantly high-risk patients using: i) resequencing microarray and...
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