Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopment...

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Détails bibliographiques
Auteurs principaux: Cuscó, Ivon, Corominas, Roser, Bayés, Mònica, Flores, Raquel, Rivera-Brugués, Núria, Campuzano, Victoria, Pérez-Jurado, Luis A.
Format: Artigo
Langue:Inglês
Publié: Cold Spring Harbor Laboratory Press 2008
Sujets:
Letter
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2336808/
https://ncbi.nlm.nih.gov/pubmed/18292220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.073197.107
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