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重新分类IDUA c.250G>A (p.Gly84Ser):证据表明可能存在伪缺陷等位基因

Christopher Connolly1, Rachel Fisher1, Chen Yang1,2

  • 1Department of Pediatrics, Division of Pediatric Genetics, University of Michigan, 1500 E Medical Center Drive, Ann Arbor, MI 48109, USA.

International journal of neonatal screening
|November 24, 2025
PubMed
概括

尽管酶活性较低,但IDUA基因变异c.250G>A (p.Gly84Ser) 在新生儿中不会引起I型多糖菌症症状. 这一发现有助于防止不必要的干预和假阳性新生儿查结果.

关键词:
胡勒氏综合征是胡勒氏综合征的一种症状.在 MPS I I 的情况下.溶酶体储存障碍 溶酶体储存障碍粘多糖糖症 粘多糖糖症新生儿查 新生儿查伪缺陷等位基因伪缺陷等位基因第一种类型是I型.

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