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临床怀疑遗传性性症患者的基因评估,具有七种新型变异

Taha Reşid Özdemir1,2, Pınar Gençpınar3, Roza Sarıteke4

  • 1Genetic Diseases Evaluation Center, Izmir City Hospital, Izmir, Turkey.

Annals of Indian Academy of Neurology
|May 30, 2025
PubMed
概括

遗传性性 (HSP) 的遗传检测非常重要,因为症状重叠. 这项研究确定了HSP基因中的新突变,提高了诊断准确度和对这种复杂的神经退行性疾病的理解.

关键词:
遗传性性残残疾人遗传性残疾人遗传异质性的遗传异质性分子诊断 分子诊断 分子诊断神经退行性疾病的神经退行性疾病新的遗传变体 新的遗传变体有针对性的下一代测序 (NGS)

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