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Updated: Jun 9, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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在土耳其人群中使用下一代测序方法对PKHD1基因变异的分布和分类

Yüksel Gezgin1,2, Berkay Kirnaz1, Rauf Baylarov3

  • 1Division of Molecular Medicine, Department of Pediatrics, Faculty of Medicine, Ege University, İzmir, Turkiye.

Turkish journal of medical sciences
|October 30, 2024
PubMed
概括

这项研究使用下一代测序在患有自体逆性多囊性病的患者中确定了PKHD1基因中的82种DNA变异. 这些发现有助于诊断遗传性病并识别携带者.

关键词:
自体复发性多囊性病自体复发性多囊性病在PKHD1基因中,PKHD1基因被发现.错误的意义的变体下一代测序的下一代测序.产前诊断 在产前诊断.

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