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Updated: Jun 19, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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针对儿科遗传性血清性贫血的下一代定向测序的诊断产量

Yu Jeong Choi1, Hongkyung Kim2, Won Kee Ahn3

  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.

BMC medical genomics
|September 11, 2023
PubMed
概括

下一代测序 (NGS) 显著有助于诊断遗传性血清性贫血 (HHA). 这种基因测试在62%的患者中确定了致病变体,证实了它在HHA诊断中的关键作用.

关键词:
遗传性血液溶解性贫血症是一种遗传性贫血症.突变 突变 突变 突变 突变这是下一代测序.

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