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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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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Acesso em linha: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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