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Updated: Jun 9, 2025

Cerebellar Regional Dissection for Molecular Analysis
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鉴定和拷贝数变异分析增强器区域的基因导致脊髓小脑缩症的基因

Fatemeh Ghorbani1, Eddy N de Boer1, Michiel R Fokkens1

  • 1Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.

International journal of molecular sciences
|October 26, 2024
PubMed
概括

研究人员确定了脊髓大脑动脉阻断 (SCA) 基因ATXN1,ATXN3,TBP和ITPR1.1的活性增强剂. 虽然这些增强剂的副本数变异在未被诊断的患者中没有发现,但这项工作为诊断罕见的神经退行性疾病开辟了新的途径.

关键词:
在4C-seqqq.增强剂是一种增强剂.基因诊断 基因诊断 基因诊断脊髓大脑小骨性动脉衰竭

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