Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F17%3A00095625" target="_blank" >RIV/00216224:14110/17:00095625 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/17:00066860
Result on the web
<a href="http://dx.doi.org/10.1080/10428194.2016.1213832" target="_blank" >http://dx.doi.org/10.1080/10428194.2016.1213832</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/10428194.2016.1213832" target="_blank" >10.1080/10428194.2016.1213832</a>

Result language
angličtina
Original language name
Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia
Original language description
Somatic heterozygous mutations of the nucleophosmin gene (NPM1) are the most frequent mutations in acute myeloid leukemia (AML) patients. Mutations occur in approximately one-third of all adult patients with AML and in one half of cytogenetically normal AML patients (CN-AML). Mutations are mostly insertions that cluster within exon 11 – at the level of transcript (Ensembl transcript ref ENST00000296930, 1758 base pairs [bp]) it means within exon 12 – at the level of genomic DNA (Ensembl gene ref ENSG00000181163, NCBI Gene ref 4869 related to the Ensembl transcript ref ENST00000517671, 1338 bp). Frame shift mutations of the NPM1 gene cause the elongation of nucleophosmin phosphoprotein and its aberrant cytoplasmic expression.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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