Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Evidence for the etiology of autism spectrum disorders (ASD) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity(1,2). We sequenced the exomes of 20 sporadic cases of ASD and their parents, reasoning that these families would be enriched for de novo...

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Hlavní autoři: O’Roak, Brian J., Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J., Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P., Ng, Sarah B., Baker, Carl, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Fisher, Simon E., Shendure, Jay, Eichler, Evan E.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115696/
https://ncbi.nlm.nih.gov/pubmed/21572417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.835
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