Ontology highlight
ABSTRACT:
SUBMITTER: Bailey GD
PROVIDER: S-EPMC7572395 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Bailey G D GD Doolan L L Baskar A A Smith L C LC Seedhouse C H CH
Scientific reports 20201019 1
Nucleophosmin is commonly both over-expressed and mutated in acute myeloid leukemia (AML). NPM1 mutations are always heterozygous. In addition, NPM1 has a number of different splice variants with the major variant encoded by exons 1-9 and 11-12 (NPM1.1). Further variants include NPM1.2 which lacks exons 8 and 10 and NPM1.3 which comprises exons 1-10 (and so lacks the region of sequence mutated in AML). In this study we quantified the expression of these three variants in 108 AML patient samples ...[more]