Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability. These variants are large and affect many genes but lack clear specificity toward autism as opposed to developmental-delay phenotypes. We exploited the repeat architecture of the genome to target segmental du...

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Detalhes bibliográficos
Main Authors: Girirajan, Santhosh, Dennis, Megan Y., Baker, Carl, Malig, Maika, Coe, Bradley P., Campbell, Catarina D., Mark, Kenneth, Vu, Tiffany H., Alkan, Can, Cheng, Ze, Biesecker, Leslie G., Bernier, Raphael, Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567267/
https://ncbi.nlm.nih.gov/pubmed/23375656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.016
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