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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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Bibliografiska uppgifter
Huvudupphovsmän: Sun, Zhe, Liu, Pengfei, Jia, Xueyuan, Withers, Marjorie A., Jin, Li, Lupski, James R., Zhang, Feng
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2013
Ämnen:
Länkar: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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