Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Alu repetitive elements are known to be major contributors to genome instability by generating Alu-mediated copy-number variants (CNVs). Most of the reported Alu-mediated CNVs are simple deletions and duplications, and the mechanism underlying Alu–Alu-mediated rearrangement has been attributed to no...

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Pubblicato in:Hum Mol Genet
Autori principali: Gu, Shen, Yuan, Bo, Campbell, Ian M., Beck, Christine R., Carvalho, Claudia M.B., Nagamani, Sandesh C.S., Erez, Ayelet, Patel, Ankita, Bacino, Carlos A., Shaw, Chad A., Stankiewicz, Paweł, Cheung, Sau Wai, Bi, Weimin, Lupski, James R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2015
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4476451/
https://ncbi.nlm.nih.gov/pubmed/25908615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv146
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