Simultaneous detection of mutations and copy number variation of NPM1 in the acute myeloid leukemia using multiplex ligation-dependent probe amplification

Malgorzata Marcinkowska-Swojak,Luiza Handschuh,Pawel Wojciechowski,Michal Goralski,Kamil Tomaszewski,Maciej Kazmierczak,Krzysztof Lewandowski,Mieczyslaw Komarnicki,Jacek Blazewicz,Marek Figlerowicz,Piotr Kozlowski

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis（2016）

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摘要

•The NPM1 mutations were detected exclusively in AML accounting for 25% of cases.•The NPM1 gene did not reveal any copy number alterations.•The NPM1mut+ assay is a reliable test for the analysis of mutations and CNA in NPM1.

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ALL,AML,BM,CE,CML,CNA,DS,FAB,FFPE,FLT3,FLT3-ITD,MLPA,MRD,MS,mut,NES,NK-AML,NPM,NoLS,PB,RNA-seq,WBC,WHO,wt

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