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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2009
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On-line přístup: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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