Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

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作者： Bai, Jinli ^[1] ; Qu, Yujin ^[2] ; OuYang, Shijia ^[3] ; Jiao, Hui ; Wang, Yang ; Li, Jingjing ; Huang, Wenchen ; Zhao, Yunlong ; Peng, Xiaoyin ; Wang, Depeng ; Jin, Yuwei ; Wang, Hong ; Song, Fang

作者单位： Capital Institute of Pediatrics (CIP),Capital Inst Pediat ^[1] Dept Neurol,Childrens Hosp Capital Inst Pediat ^[2] GrandOm Biosci ^[3]

关键词 Spinal muscular atrophy Survival motor neuron gene-1 Ultra -long read sequencing Structural rearrangements Alu elements MUTATION SPECTRUM SINGLE NUCLEOTIDE SURVIVAL RECOMMENDATIONS MANAGEMENT CONVERSION UPDATE SMA

发布时间 2023-09-16

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Neuromuscular disorders

2023年33卷5期

382-390页

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Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

Neuromuscular disorders

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Neuromuscular disorders

相关期刊

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Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

Neuromuscular disorders

相似文献

Neuromuscular disorders

相关期刊

检索历史清除