Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F13%3A33144963" target="_blank" >RIV/61989592:15110/13:33144963 - isvavai.cz</a>
Result on the web
<a href="http://onlinelibrary.wiley.com/doi/10.1111/bjh.12431/full" target="_blank" >http://onlinelibrary.wiley.com/doi/10.1111/bjh.12431/full</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bjh.12431" target="_blank" >10.1111/bjh.12431</a>

Result language
angličtina
Original language name
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia
Original language description
Familial polycythaemia (erythrocytosis) is comprised of several inherited disorders arising from diverse aetiological factors. Primary polycythaemias are characterized by defects within erythroid progenitors, which either grow independently or are hypersensitive to erythropoietin (EPO), while secondary polycythaemias are from circulating factors, such as EPO.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
—

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
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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