Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

Pseudoexon (PE) inclusion has been implicated in various dystrophinopathies; however, its splicing characteristics have not been fully investigated. This study aims to analyze the splicing characteristics of dystrophin PEs and compare them with those of dystrophin canonical exons (CEs). Forty-two re...

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Veröffentlicht in:Genes (Basel)
Hauptverfasser: Xie, Zhiying, Tang, Liuqin, Xie, Zhihao, Sun, Chengyue, Shuai, Haoyue, Zhou, Chao, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Zhang, Wei, Leal, Suzanne M., Wang, Zhaoxia, Schrauwen, Isabelle, Yuan, Yun
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7650627/
https://ncbi.nlm.nih.gov/pubmed/33050418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11101180
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