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Article

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.

Human mutation - 1 Mar 2020

Ling Chao, Dai Yi, Fang Li, Yao Fengxia, Liu Zhe, Qiu Zhengqing, Cui Liying, Xia Fan, Zhao Chen, Zhang Shuyang, Wang Kai, Zhang Xue

Abstract excerpt

Exonic deletions and duplications within DMD are the main pathogenic variants in Duchenne and Becker muscular dystrophies (DMD/BMD). However, few studies have profiled the flanking sequences of breakpoints and the potential mechanism underlying the breakpoints in different fragile regions of DMD. In this study, 896 Chinese male probands afflicted with DMD/BMD were selected from unrelated families and analyzed...

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Identifiers

PMID: 31705731
DOI: 10.1002/humu.23953
PMCID: PMC7028077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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