Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F19%3AN0000022" target="_blank" >RIV/00023728:_____/19:N0000022 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10401964 RIV/00064165:_____/19:10401964
Result on the web
<a href="https://doi.org/10.1186/s13075-019-2007-7" target="_blank" >https://doi.org/10.1186/s13075-019-2007-7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13075-019-2007-7" target="_blank" >10.1186/s13075-019-2007-7</a>

Result language
angličtina
Original language name
Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
Original language description
We identified a novel functionally null variant p.I242T of ABCG2 transporter that related to the development of early onset of hyperuricemia/gout in a European pedigree.
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
—
OECD FORD branch
30226 - Rheumatology

Project
<a href="/en/project/NV15-26693A" target="_blank" >NV15-26693A: Function study of allelic variants of urate transporters in primary hyperuricemia and gout</a><br>
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

Result description