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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Publicat a:Genome Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Research
Accés en línia: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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