Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

BACKGROUND: Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally u...

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發表在:Genome Med
Main Authors: Middelkamp, Sjors, van Heesch, Sebastiaan, Braat, A. Koen, de Ligt, Joep, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J. E., Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke E., Ippel, Elly F., Adolfs, Youri, Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin
格式: Artigo
語言:Inglês
出版: BioMed Central 2017
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5270341/
https://ncbi.nlm.nih.gov/pubmed/28126037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0399-z
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