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Updated: Jun 20, 2025

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检测血友病A遗传变体使用第三代长读序列的测序

Xiaoting Ling1, Liqiu Pan1, Linlin Li1

  • 1Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, China.

Clinica chimica acta; international journal of clinical chemistry
|July 22, 2024
PubMed
概括

使用长读序列 (LRS) 的新方法准确检测出用于血友病A (HA) 诊断的所有F8基因变异. 这种高效的方法有助于对高风险个体进行遗传查和产前检测.

关键词:
基因检测检测的基因检测血友病A型 血友病A型 血友病长读测序,F8基因的测序变化的变化 变化的变化

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