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Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
Genomic rearrangements such as intragenic deletions and duplications are the most prevalent type of mutations in the dystrophin gene resulting in Duchenne and Becker muscular dystrophy (D/BMD). These copy number variations (CNVs) are nonrecurrent and can result from either nonhomologous end joining...
Autores principales: | Baskin, Berivan, Stavropoulos, Dimitri J, Rebeiro, Paige A, Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R, Lemire, Edmond G, Boycott, Kym M, Gibson, William, Ray, Peter N |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303224/ https://www.ncbi.nlm.nih.gov/pubmed/25614876 http://dx.doi.org/10.1002/mgg3.108 |
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