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Updated: Jan 18, 2026

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在日本脊髓小脑动症中,整体外基因组测序识别出了新型变异

Tomoaki Watanabe1,2, Kodai Kume3, Ken Inoue4

  • 1Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.

Journal of human genetics
|September 12, 2025
PubMed
概括

研究人员在ELOVL4,ELOVL5和GRM1基因中发现了与脊髓脑动症 (SCA) 相关的新型遗传变异. 这一发现有助于诊断以前未被诊断的SCA患者,这些患者除了小脑功能障碍之外还有各种症状.

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