Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms...

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Main Authors: Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., Shaw, Chad, Peacock, Sandra, Pursley, Amber, Tavyev, Y. Jane, Ramocki, Melissa B., Nawara, Magdalena, Obersztyn, Ewa, Vianna-Morgante, Angela M., Stankiewicz, Pawel, Zoghbi, Huda Y., Cheung, Sau Wai, Lupski, James R.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2009
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Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2685756/
https://ncbi.nlm.nih.gov/pubmed/19324899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp151
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