Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established cause of developmental and somatic disorders and has also been detected in...

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Bibliografiske detaljer
Main Authors: Rodríguez-Santiago, Benjamín, Malats, Núria, Rothman, Nathaniel, Armengol, Lluís, Garcia-Closas, Montse, Kogevinas, Manolis, Villa, Olaya, Hutchinson, Amy, Earl, Julie, Marenne, Gaëlle, Jacobs, Kevin, Rico, Daniel, Tardón, Adonina, Carrato, Alfredo, Thomas, Gilles, Valencia, Alfonso, Silverman, Debra, Real, Francisco X., Chanock, Stephen J., Pérez-Jurado, Luis A.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2010
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896781/
https://ncbi.nlm.nih.gov/pubmed/20598279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.002
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