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Updated: Jul 3, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

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用下一代测序面板进行肢体带肌肉衰竭的分子诊断

Gamze Sarıkaya Uzan1, Ceren Yılmaz Uzman2, Tayfun Çinleti2

  • 1Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

Molecular syndromology
|February 15, 2024
PubMed
概括

下一代测序 (NGS) 面板为肢体腰带肌肉发育不良症 (LGMD) 提供了高的诊断产量,有助于早期和准确地识别这种异质遗传肌肉疾病.

关键词:
诊断的收益率是一个问题.肢体腰带肌肉缩症 肢体腰带肌肉缩症神经肌肉疾病 神经肌肉疾病这是下一代测序.小说变体小说变体

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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

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