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Updated: Jun 15, 2026

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[一个性的病例与SPG4和SPG3相关突变]

G E Rudenskaya1, A S Kuchina1, V A Kadnikova1

  • 1Bochkov Research Centre for Medical Genetics, Moscow, Russia.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
|June 14, 2023
PubMed
概括

一种罕见的自体主导性性 (SPG) 病例涉及SPG4和SPG3基因的组合突变. 大规模并行测序确定了这些突变,突出了其在诊断复杂遗传神经系统疾病中的有用性.

关键词:
在SPAST和ATL1突变中.SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3 SPG3在SPG4中,SPG4是SPG4.不完全的穿透透度不完整的穿透度独立的巧合 独立的巧合性残症是一种性残症.

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