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Updated: Sep 10, 2025

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
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雷特综合征:特定的MECP2变异与血清神经纤维光链的升高有关

Emma Hirn1, Brenda Huppke1, Bernd Wilken2

  • 1Department of Neuropediatrics, Jena University Hospital, Jena, Germany.

Pediatric neurology
|August 22, 2025
PubMed
概括

在一些雷特综合征患者中,血清神经纤维光链 (sNfL) 水平升高,表明神经元受损. 这种升高与特定的严重MECP2变异有关,这表明sNfL是未来治疗的生物标志物.

关键词:
其他类型甲基CpG结合蛋白2的变种雷特综合征血清神经纤维光链

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