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Updated: May 13, 2025

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优化FSHD位点的分子调查:使用单分子光学映射和南方斑点分析的集成工作流

Joowon Jang1,2, Hobin Sung1, Jung-Ae Lee1

  • 1Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, The Republic of Korea.

Journal of medical genetics
|April 15, 2025
PubMed
概括

诊断复杂重组的肌肉缩 (FSHD) 需要一个综合的方法. 单分子光学映射 (SMOM) 是有希望的,但需要补充方法来准确诊断,特别是转位.

关键词:
遗传性疾病,先天性疾病.分子诊断技术 分子诊断技术神经肌肉疾病 神经肌肉疾病

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