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

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the <i>DMD</i> 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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Bibliographic Details
Main Authors: Zhiying Xie, Liuqin Tang, Zhihao Xie, Chengyue Sun, Haoyue Shuai, Chao Zhou, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Wei Zhang, Suzanne M. Leal, Zhaoxia Wang, Isabelle Schrauwen, Yun Yuan
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Genes
Subjects:
pseudoexon
canonical exon
splicing characteristics
<i>DMD</i>
intronic variants
Online Access:https://www.mdpi.com/2073-4425/11/10/1180

Internet

https://www.mdpi.com/2073-4425/11/10/1180

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