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Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored. Because brain tissue is not available from most samples, we interrogated gene expression in lymphoblasts from 244 families wit...

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Detalhes bibliográficos
Main Authors: Luo, Rui, Sanders, Stephan J., Tian, Yuan, Voineagu, Irina, Huang, Ni, Chu, Su H., Klei, Lambertus, Cai, Chaochao, Ou, Jing, Lowe, Jennifer K., Hurles, Matthew E., Devlin, Bernie, State, Matthew W., Geschwind, Daniel H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397271/
https://ncbi.nlm.nih.gov/pubmed/22726847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.011
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