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...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2014
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303224/
https://ncbi.nlm.nih.gov/pubmed/25614876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.108
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