Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F16%3A33160728" target="_blank" >RIV/61989592:15110/16:33160728 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11150/16:10332546
Result on the web
<a href="http://www.sciencedirect.com/science/article/pii/S1079979616300377" target="_blank" >http://www.sciencedirect.com/science/article/pii/S1079979616300377</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bcmd.2016.04.002" target="_blank" >10.1016/j.bcmd.2016.04.002</a>

Result language
angličtina
Original language name
Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1
Original language description
Hexokinase (HK) is a key enzyme of glycolysis, the only metabolic pathway able to provide the red blood cell with ATP. HK deficiency is a very rare hereditary disorder with severe chronic nonspherocytic hemolytic anemia (HNSHA) as a major clinical feature. To date, only 24 patients with HK deficiency have been identified. Here, we report the molecular analysis of six new cases of HK deficiency.
Czech name
—
Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
<a href="/en/project/GAP301%2F12%2F1503" target="_blank" >GAP301/12/1503: Cellular and molecular characterization of abnormal signaling in primary polycythemia</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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