npm1 gene mutations in children with myelodysplastic syndromes

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ID: 245605
2011
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Abstract
Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.
Reference Key
biljana2011archivesnpm1 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Jekić Biljana;Bunjevački Vera;Dobričić Valerija;Novaković Ivana;Milašin Jelena;Popović Branka;Damnjanović Tatjana;Maksimović Nela;Perović V.;Luković Ljiljana
Journal gastrointestinal endoscopy
Year 2011
DOI
10.2298/ABS1103649J
URL
http://www.doiserbia.nb.rs/img/doi/0354-4664/2011/0354-46641103649J.pdf
Keywords
myelodysplastic syndromes childrenbiology (general)

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