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Updated: May 1, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
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Published on: May 16, 2017

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C1QTNF5错误的变体导致自体主导的旋转性缩类似的冠状动脉缩

Denise Yang-Seeger1, Laurenz J B Pauleikhoff1, Yevgeniya Atiskova1

  • 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Ophthalmic genetics
|May 14, 2025
PubMed
概括

确定了一名患有自体主导的旋转形缩样胆管缩症 (adGALCD) 的患者. 基因测试证实了C1QTNF5基因变异,支持其在adGALCD中的作用.

关键词:
在C1QTNF5中.冠状腺缩症 冠状腺缩症 冠状腺缩症自体主导的旋转形形形形形形 (adGALCD)遗传视网膜疾病 遗传视网膜疾病现型定制 现型定制 现型定制

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