An organismal CNV mutator phenotype restricted to early human development

De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities. We describe a multiple dnCNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional dnCNVs. Thes...

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Detaylı Bibliyografya
Yayımlandı:Cell
Asıl Yazarlar: Liu, Pengfei, Yuan, Bo, Carvalho, Claudia M.B., Wuster, Arthur, Walter, Klaudia, Zhang, Ling, Gambin, Tomasz, Chong, Zechen, Campbell, Ian M., Akdemir, Zeynep Coban, Gelowani, Violet, Writzl, Karin, Bacino, Carlos A., Lindsay, Sarah, Withers, Marjorie, Gonzaga-Jauregui, Claudia, Wiszniewska, Joanna, Scull, Jennifer, Stankiewicz, Pawel, Jhangiani, Shalini N., Muzny, Donna M., Zhang, Feng, Chen, Ken, Gibbs, Richard A., Rautenstrauss, Bernd, Cheung, Sau Wai, Smith, Janice, Breman, Amy, Shaw, Chad A., Patel, Ankita, Hurles, Matthew E., Lupski, James R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5407901/
https://ncbi.nlm.nih.gov/pubmed/28235197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2017.01.037
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