| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8315391 | Clinica Chimica Acta | 2012 | 7 Pages |
Abstract
⺠We report two nonconsanguineous patients with xanthinuria type I. ⺠Probands showed extremely low levels of uric acid under the limit of detection. ⺠We were not able to demonstrate decreased or otherwise aberrant uromodulin excretion. ⺠We do not confirm consanguinity in the probands by haplotype and statistical analyses. ⺠We found three nonsense changes: p.P214QfsX4 and unpublished p.R825X and p.R881X.
Keywords
THPxanthinuriaHyper-variable regionUMODTamm–Horsfall proteinARFHVRDXSSTRSDS-PAGEsodium dodecylsulphate polyacrylamide gel electrophoresisFADShort tandem repeatsuromodulinXanthine dehydrogenase/oxidaseAcute renal failureknock-outrenal hypouricemiaHypouricemiapolymerase chain reactionPCRhigh performance liquid chromatographyHPLC
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Authors
Blanka Stiburkova, Jakub Krijt, Petr Vyletal, Josef Bartl, Eva Gerhatova, Martin Korinek, Ivan Sebesta,