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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Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha: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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