Genetic variant screening of DNA repair genes in myelodysplastic syndrome identifies a novel mutation in the XRCC2 gene

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F19%3A00012600" target="_blank" >RIV/00023736:_____/19:00012600 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10399258 RIV/00064165:_____/19:10399258
Result on the web
<a href="https://doi.org/10.1159/000497209" target="_blank" >https://doi.org/10.1159/000497209</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000497209" target="_blank" >10.1159/000497209</a>

Result language
angličtina
Original language name
Genetic variant screening of DNA repair genes in myelodysplastic syndrome identifies a novel mutation in the XRCC2 gene
Original language description
We aimed to detect single nucleotide polymorphisms (SNPs) and mutations in DNA repair genes and their possible association with myelodysplastic syndrome (MDS). Targeted enrichment resequencing of 84 DNA repair genes was initially performed on a screening cohort of MDS patients. Real-time polymerase chain reaction was used for genotyping selected SNPs in the validation cohort of patients. Our study demonstrates that genetic variants are present in DNA repair genes of MDS patients and may be associated with susceptibility to MDS.
Czech name
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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
30205 - Hematology

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)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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