| JEŽÍŠKOVÁ, Ivana, Lukas SEMERAD, Dana DVOŘÁKOVÁ, Veronika JANEČKOVÁ, Martin ČULEN, Tamara KUNETKOVÁ, Jiří MAYER a Zdeněk RÁČIL. Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia. Leukemia & Lymphoma. Abingdon: Taylor & Francis LTD, 2017, roč. 58, č. 3, s. 746-748. ISSN 1042-8194. Dostupné z: https://dx.doi.org/10.1080/10428194.2016.1213832. |
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@article{1363880,
author = {Ježíšková, Ivana and Semerad, Lukas and Dvořáková, Dana and Janečková, Veronika and Čulen, Martin and Kunetková, Tamara and Mayer, Jiří and Ráčil, Zdeněk},
article_location = {Abingdon},
article_number = {3},
doi = {http://dx.doi.org/10.1080/10428194.2016.1213832},
keywords = {NUCLEOPHOSMIN; AML},
language = {eng},
issn = {1042-8194},
journal = {Leukemia & Lymphoma},
title = {Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia},
url = {https://www.tandfonline.com/doi/pdf/10.1080/10428194.2016.1213832?needAccess=true},
volume = {58},
year = {2017}
}
TY - JOUR
ID - 1363880
AU - Ježíšková, Ivana - Semerad, Lukas - Dvořáková, Dana - Janečková, Veronika - Čulen, Martin - Kunetková, Tamara - Mayer, Jiří - Ráčil, Zdeněk
PY - 2017
TI - Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia
JF - Leukemia & Lymphoma
VL - 58
IS - 3
SP - 746-748
EP - 746-748
PB - Taylor & Francis LTD
SN - 10428194
KW - NUCLEOPHOSMIN
KW - AML
UR - https://www.tandfonline.com/doi/pdf/10.1080/10428194.2016.1213832?needAccess=true
L2 - https://www.tandfonline.com/doi/pdf/10.1080/10428194.2016.1213832?needAccess=true
N2 - 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.
ER -
JEŽÍŠKOVÁ, Ivana, Lukas SEMERAD, Dana DVOŘÁKOVÁ, Veronika JANEČKOVÁ, Martin ČULEN, Tamara KUNETKOVÁ, Jiří MAYER a Zdeněk RÁČIL. Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia. \textit{Leukemia \&{} Lymphoma}. Abingdon: Taylor \&{} Francis LTD, 2017, roč.~58, č.~3, s.~746-748. ISSN~1042-8194. Dostupné z: https://dx.doi.org/10.1080/10428194.2016.1213832.
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