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Updated: Jun 9, 2026

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作为单个测试的有针对性的长读序列化改进了对缩性缺氧障碍的诊断

Laura Ivete Rudaks1,2,3,4, Igor Stevanovski3,5, Dennis Yeow1,2,3,6,7

  • 1Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

Annals of clinical and translational neurology
|February 26, 2025
PubMed
概括

长读序列改进了遗传性 - 缺氧谱系障碍的遗传诊断. 这种单一试验简化了测试,并增加了这些致残神经疾病的诊断产量.

关键词:
遗传性小脑动症 遗传性小脑动症遗传性性残残疾人遗传性残疾人纳米孔测序的测序脊髓大脑小骨性动脉衰竭

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