Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I
Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1....
| 主要な著者: | , , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
De Gruyter
2021-07-01
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| シリーズ: | Advances in Laboratory Medicine |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1515/almed-2021-0018 |