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Duplications in theDMD gene

Published:2006 Issue:9 Volume:27 Page:938-945
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

White S.J.,Aartsma-Rus A.,Flanigan K.M.,Weiss R.B.,Kneppers A.L.J.,Lalic T.,Janson A.A.M.,Ginjaar H.B.,Breuning M.H.,den Dunnen J.T.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20367/fullpdf

Reference41 articles.

1. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy

2. Measurement of locus copy number by hybridisation with amplifiable probes

3. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

4. Alu Repeats and Human Disease

Cited by 131 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing;BMC Genomics;2024-03-19

2. Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle;Experimental Physiology;2023-12-14

3. Long-term dystrophin restoration supports development of splice correction therapy for DMD patients with exon 2 duplications;Molecular Therapy - Methods & Clinical Development;2023-12

4. Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model;Molecular Therapy - Methods & Clinical Development;2023-12

5. Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies;iScience;2023-12

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