Litcius/Paper detail

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

Jin-li Bai, Yu-jin Qu, Shijia Ouyang, Hui Jiao, Yang Wang, Jingjing Li, Wen‐Chen Huang, Yunlong Zhao, Xiaoyin Peng, Depeng Wang, Yuwei Jin, Hong Wang, Fang Song

2023Neuromuscular Disorders14 citationsDOI

Topics & Concepts

SMN1Spinal muscular atrophySMA*BiologyGeneticsGeneBreakpointIntronMolecular biologyChromosomal translocationAlgorithmComputer scienceNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerCongenital Anomalies and Fetal Surgery