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Updated: Jun 28, 2025

Cerebellar Regional Dissection for Molecular Analysis
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CAG重复马赛克是脊髓小脑缩症中的基因特异性

Radhia Kacher1, François-Xavier Lejeune2, Isabelle David3

  • 1Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hopital de la Pitié-Salpêtrière, Paris, France.

American journal of human genetics
|April 16, 2024
PubMed
概括

脊髓大脑缩 (SCAs) 中的CAG重复扩张在血液和大脑组织中终身增加. 这种体质马赛克因SCA类型和组织而异,影响疾病的进展.

关键词:
在ATXN1中,它是ATXN1.在ATXN2中使用.在ATXN3中使用.在ATXN7中,它是ATXN7.在CAG重复中重复.修复DNA的修复DNA的修复在 SCA SCA 中.重复扩张的扩张.身体上的不稳定性.脊髓大脑小骨性动脉衰竭

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