Replicative mechanisms for CNV formation are error prone

We investigated 67 breakpoint junctions of gene copy number gains (CNVs) in 31 unrelated subjects. We observed a strikingly high frequency of small deletions and insertions (29%) apparently originating from polymerase-slippage events, in addition to frameshifts and point mutations in homonucleotide...

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Main Authors: Carvalho, Claudia M. B., Pehlivan, Davut, Ramocki, Melissa B., Fang, Ping, Alleva, Benjamin, Franco, Luis M., Belmont, John W., Hastings, P. J., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3821386/
https://ncbi.nlm.nih.gov/pubmed/24056715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2768
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