Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome

Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in ‘trans’, i.e. via interchromosomal events, or in ‘cis’, i.e. via intrachromosomal events. However, what molecular mechanisms occur between...

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Main Authors: Sun, Zhe, Liu, Pengfei, Jia, Xueyuan, Withers, Marjorie A., Jin, Li, Lupski, James R., Zhang, Feng
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2013
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3554201/
https://ncbi.nlm.nih.gov/pubmed/23161748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds482
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