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Updated: Jun 13, 2025

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一个新的和明显的ALAS2误解变体与先天性 sideroblastic 贫血有关

Jianling Cai1, Tianming Liu2, Yuxuan Huang3

  • 1Department of Pediatrics, The First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.

Frontiers in pediatrics
|September 16, 2024
PubMed
概括

我们发现了一种新的ALAS2基因变异,在一个男孩身上引起先天性 sideroblastic 贫血 (CSA). 这种对素敏感的贫血突显了对CSA的基因测试的重要性.

关键词:
在ALAS2中使用ALAS2.这是先天的,先天的.在分析中,分析.皮里多克辛 (pyridoxine) 是一种素.在 sideroblastic 贫血症.

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