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Updated: Jun 27, 2025

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通过RNA测序识别的LAMA2中发现了一种新型的深层内部变异

Djurdja Djordjevic1, Issa Alawneh2, Kimberly Amburgey3

  • 1Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada.

Neuromuscular disorders : NMD
|May 1, 2024
PubMed
概括

与LAMA2相关的肌肉发育不良,一种影响神经系统的疾病,可能源于深层内部变异. RNA测序确定了LAMA2中的新型拼接接口,揭示了疾病的潜在原因.

关键词:
遗传性肌肉发育不良是一种先天性肌肉发育不良.拉米诺病症是一种拉米诺病.有关RNA测序的RNA测序

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