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Updated: Jul 26, 2025

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使用临床外体序列测序对免疫的先天性错误进行遗传诊断

Soon Sung Kwon1, Youn Keong Cho1, Seungmin Hahn2

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

Frontiers in immunology
|June 16, 2023
PubMed
概括

临床外体序列测定 (CES) 在40.5%的韩国患者中有效诊断出免疫的先天性错误 (IEI). 这种基因测试方法识别了致病变体,有助于准确诊断和治疗这些复杂的免疫疾病.

关键词:
临床外基因组测序基因诊断 基因诊断 基因诊断免疫的先天错误 免疫的先天错误这是一个偶然的发现.下一代测序的下一代测序.身体变异体的变异体.

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