What is it about?
Common genetic dysfunctional variants cause gout, a common disease.
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Why is it important?
The genetic cause of gout was revealed in this report. Combination of dysfunctional variants decreases urate excretion via ABCG2, which was demonstrated as a high-capacity urate exporter.
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This page is a summary of: Common Defects of ABCG2, a High-Capacity Urate Exporter, Cause Gout: A Function-Based Genetic Analysis in a Japanese Population, Science Translational Medicine, November 2009, American Association for the Advancement of Science,
DOI: 10.1126/scitranslmed.3000237.
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