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Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria
Background: Hypouricemia is caused by various diseases and disorders, such as hepatic failure, Fanconi renotubular syndrome, nutritional deficiencies and genetic defects. Genetic defects of the molybdoflavoprotein enzymes induce hypouricemia and xanthinuria. Here, we identified a patient whose plasm...
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| Main Authors: | , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Cell Physiol Biochem Press GmbH & Co KG
2015-04-01
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| 叢編: | Cellular Physiology and Biochemistry |
| 主題: | |
| 在線閱讀: | http://www.karger.com/Article/FullText/374042 |
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