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Updated: Jul 14, 2025

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由SUPT5H缺陷引起的β-血病特征:另一个案例报告

Zhi-Qing Xiao1, Fan Jiang1, Dong-Zhi Li1

  • 1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, People's Republic of China.

Hemoglobin
|October 9, 2023
PubMed
概括

在一个患有β-thalassemia特征的中国女性中发现了SUPT5H基因的新突变. 这一发现表明,SUPT5H可能在调节β-环球蛋白的产生方面发挥作用.

关键词:
血球蛋白病变 血球蛋白病变在 SUPT5H 中, SUPT5H 包含了分子诊断 分子诊断 分子诊断在 β-thalassemia 的情况下.

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