High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction-Reference-Cited by-同舟云学术

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

Published:2015-06-02 Issue:5 Volume:43 Page:441-445
ISSN:2194-7228
Container-title:Urolithiasis
language:en
Short-container-title:Urolithiasis

Author:

Gabrikova Dana,Bernasovska Jarmila,Sokolova Jitka,Stiburkova Blanka

Funder

The Ministry of Education, Youth and Sports

The Ministry of Health

SRDA

ASFEU

Publisher

Springer Science and Business Media LLC

Subject

Urology

Link

http://link.springer.com/content/pdf/10.1007/s00240-015-0790-4.pdf

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2. Bhasin B, Stiburkova B, De Castro-Pretelt M, Beck N, Bodurtha JN, Atta MG (2014) Hereditary renal hypouricemia: a new role for allopurinol? Am J Med 127:e3–e4

3. Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H (2004) A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int 66:935–944

4. Sebesta I, Stiburkova B, Bartl J, Ichida K, Hosoyamada M, Taylor J, Marinaki A (2011) Diagnostic tests for primary renal hypouricemia. Nucleosides Nucleotides Nucleic Acids 30:1112–1116

5. Stiburkova B, Sebesta I, Ichida K, Nakamura M, Hulkova H, Krylov V, Kryspinova L, Jahnova H (2013) Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. Eur J Hum Genet 21:1067–1073

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