Prevalence of URAT allelic variants in the Roma population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F16%3AN0000066" target="_blank" >RIV/00023728:_____/16:N0000066 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1080/15257770.2016.1168839" target="_blank" >https://doi.org/10.1080/15257770.2016.1168839</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/15257770.2016.1168839" target="_blank" >10.1080/15257770.2016.1168839</a>
Alternative languages
Result language
angličtina
Original language name
Prevalence of URAT allelic variants in the Roma population
Original language description
This study confirms our previous findings regarding the high frequency of SLC22A12 variants observed. Frequencies of the c.1245_1253del and c.1400C>T variants were found to be 1.92% and 5.56%, respectively, in a subgroup of the Roma population from five regions in three countries: Slovakia, Czech Republic, and Spain. Our findings suggested that the common dysfunction allelic variants of URAT1 exist in the general Roma population and thus renal hypouricemia should be kept in differential diagnostic algorithm on Roma patients with defect in renal tubular urate transport. This leads to confirm that the genetic drift in the Roma have increased the prevalence of hereditary disorders caused by very rare variants in major population.
Czech name
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Czech description
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Classification
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
30226 - Rheumatology
Result continuities
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
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
ISSN
1525-7770
e-ISSN
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Volume of the periodical
35
Issue of the periodical within the volume
10-12
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
529-535
UT code for WoS article
000389143100006
EID of the result in the Scopus database
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