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

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...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Ling, Chao, Dai, Yi, Fang, Li, Yao, Fengxia, Liu, Zhe, Qiu, Zhengqing, Cui, Liying, Xia, Fan, Zhao, Chen, Zhang, Shuyang, Wang, Kai, Zhang, Xue
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7028077/
https://ncbi.nlm.nih.gov/pubmed/31705731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23953
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