Simultaneous occurrence of acute myeloid leukaemia with mutated nucleophosmin (NPM1) in the same family
β Scribed by Cazzaniga, G; Lo Nigro, L; Cifola, I; Milone, G; Schnittger, S; Haferlach, T; Mirabile, E; Costantino, F; Martelli, M P; Mastrodicasa, E
- Book ID
- 109886526
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 445 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0887-6924
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## Abstract Nucleophosmin (NPM) is a ubiquitously expressed chaperone protein that shuttles rapidly between the nucleus and cytoplasm, but predominantly resides in the nucleolus. It plays key roles in ribosome biogenesis, centrosome duplication, genomic stability, cell cycle progression and apoptos
Nucleophosmin mutations of exon 12 (NPM1 mutations) represent the most frequent molecular aberration that can be found in patients with acute myeloid leukaemia (AML) and can be detected in about 35% of AML patients. NPM1 mutations are characterised by four basepair insertions within the region corre