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Article

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

Genes - 10 Oct 2020

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

Abstract excerpt

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 reported dystrophin PEs were divided into a splice site (ss) group and a splicing regulatory element (SRE) group. Five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Identifiers

PMID: 33050418
DOI: 10.3390/genes11101180
PMCID: PMC7650627

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