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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Pubblicato in:Genome Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
Soggetti:
Research
Accesso online: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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