Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage – fusion - bridge for telomere stabilization

Constitutional deletions of distal 9q34 encompassing the EHMT1 (euchromatic histone methyltransferase 1) gene, or loss-of-function point mutations in EHMT1, are associated with the 9q34.3 microdeletion, also known as Kleefstra syndrome [MIM#610253]. We now report further evidence for genomic instabi...

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Hlavní autoři: Yatsenko, Svetlana A., Hixson, Patricia, Roney, Erin K., Scott, Daryl A., Schaaf, Christian P., Ng, Yu-tze, Palmer, Robbin, Fisher, Richard B., Patel, Ankita, Cheung, Sau Wai, Lupski, James R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3493700/
https://ncbi.nlm.nih.gov/pubmed/22890305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-012-1216-9
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