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通过小基因拼接试验对HGD基因变异的功能性表征

Andrey Nekrasov1, Elza Shchukina2, Beatrisa Rimskaya1

  • 1Research Centre for Medical Genetics, 115522 Moscow, Russia.

International journal of molecular sciences
|November 13, 2025
PubMed
概括

调查影响拼接的HGD基因变异可以改善阿尔卡普顿 (AKU) 诊断. 功能分析重新分类了变体,增强了对这种罕见代谢障碍的致病性评估.

关键词:
这就是AKU AKU.在HGD中,我们可以使用HGD.阿尔卡普托努里亚 (Alkaptonuria) 是一种疾病.同质化 1,2-二氧化基酶.均质酸是一种同质酸.迷你基因是一种微型基因.这是一个假的exonon.拼接 拼接 拼接 拼接

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