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

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

Summary: 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-r...

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Bibliographic Details
Main Authors: Chao Ling, Yi Dai, Chang Geng, Shirang Pan, Weipeng Quan, Qingyun Ding, Xunzhe Yang, Dongchao Shen, Qing Tao, Jingjing Li, Jia Li, Yinbing Wang, Shan Jiang, Yang Wang, Lin Chen, Liying Cui, Depeng Wang
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:iScience
Subjects:
Health sciences
Clinical genetics
Pediatrics
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004223024422

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http://www.sciencedirect.com/science/article/pii/S2589004223024422

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