A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F18%3AN0000002" target="_blank" >RIV/00023728:_____/18:N0000002 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/18:10377033
Result on the web
<a href="https://doi.org/10.1186/s12887-018-1185-9" target="_blank" >https://doi.org/10.1186/s12887-018-1185-9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12887-018-1185-9" target="_blank" >10.1186/s12887-018-1185-9</a>
Alternative languages
Result language
angličtina
Original language name
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
Original language description
Background: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and/or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute kidney injury. Type 1 is caused by dysfunctional variants in the SLC22A12 gene (URAT1), while type 2 is caused by defects in the SLC2A9 gene (GLUT9). To date, more than 150 patients with the loss-of-function mutations for the SLC22A12 gene have been found (compound heterozygotes and/or homozygotes), most of whom are Japanese and Koreans.
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
30217 - Urology and nephrology
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)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BMC PEDIATRICS
ISSN
1471-2431
e-ISSN
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Volume of the periodical
18
Issue of the periodical within the volume
Art. Nr. 210
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
1-5
UT code for WoS article
000436967900001
EID of the result in the Scopus database
2-s2.0-85049243786