Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients with constitutional mosaic aneuploidy, we identifie...

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Detalles Bibliográficos
Autores principales: de Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V, Hanks, Sandra, Tromer, Eelco C, van Hooff, Jolien J E, van Voorthuijsen, Lisa, van Rooijen, Laura E, Verbeeren, Jens, Uijttewaal, Esther C H, Baltissen, Marijke P A, Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J, Kops, Geert J P L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280824/
https://www.ncbi.nlm.nih.gov/pubmed/34009673
http://dx.doi.org/10.15252/embj.2020106536

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