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Updated: Jun 4, 2025

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
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在MECP2重复综合征中,结构变异的基异质性提供了对疾病表现的临床严重程度和变异性的洞察

Davut Pehlivan1,2,3,4, Jesse D Bengtsson5, Sameer S Bajikar6,7

  • 1Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.

Genome medicine
|December 19, 2024
PubMed
概括

基因组重组结构影响MECP2重复综合征的严重程度. 基因重组的类型会影响基因表达和临床结果,指导这种神经发育障碍的潜在治疗策略.

关键词:
在MECP2重复综合征中.临床严重程度 临床严重程度在 MRXSL 中,我们可以看到 MRXSL.幸存的生存方式协同复制的双重复制.终端重复的重复 终端重复

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