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Updated: Jun 20, 2025

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
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骨质发生不完美的患者的基因型和表型相关性

Lamiya Aliyeva1, Yasemin Denkboy Ongen2, Erdal Eren2

  • 1Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Medical Genetics, Atakent Hospital, Acibadem Health Group, Istanbul, Türkiye.

The Journal of molecular diagnostics : JMD
|July 18, 2024
PubMed
概括

下一代测序通过识别遗传变异,有效地诊断出骨质不完善 (Osteogenesis Imperfecta,OI). 基因型-表型相关性有助于区分OI亚型和诊断新病例.

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