Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies

Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by complex mutations in the dystrophin gene (DMD). Currently, there is no integrative method for the precise detection of all potential DMD variants, a gap which we aimed to address using long-read sequencing. The captured long-read seque...

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Detalles Bibliográficos
Autores principales: Ling, Chao, Dai, Yi, Geng, Chang, Pan, Shirang, Quan, Weipeng, Ding, Qingyun, Yang, Xunzhe, Shen, Dongchao, Tao, Qing, Li, Jingjing, Li, Jia, Wang, Yinbing, Jiang, Shan, Wang, Yang, Chen, Lin, Cui, Liying, Wang, Depeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690541/
https://www.ncbi.nlm.nih.gov/pubmed/38047063
http://dx.doi.org/10.1016/j.isci.2023.108365

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690541/
https://www.ncbi.nlm.nih.gov/pubmed/38047063
http://dx.doi.org/10.1016/j.isci.2023.108365

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